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NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 2, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000317485.4

Allele description [Variation Report for NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)]

NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
HGVS:
  • NC_000011.10:g.31802793C>G
  • NG_008679.1:g.20169G>C
  • NM_000280.6:c.52G>C
  • NM_001127612.3:c.52G>C
  • NM_001258462.3:c.52G>C
  • NM_001258463.2:c.52G>C
  • NM_001258464.2:c.52G>C
  • NM_001258465.3:c.52G>C
  • NM_001310158.2:c.52G>C
  • NM_001310159.1:c.52G>C
  • NM_001310160.2:c.-730G>C
  • NM_001310161.3:c.-399G>C
  • NM_001368887.2:c.52G>C
  • NM_001368888.2:c.52G>C
  • NM_001368889.2:c.52G>C
  • NM_001368890.2:c.52G>C
  • NM_001368891.2:c.52G>C
  • NM_001368892.2:c.52G>C
  • NM_001368893.2:c.52G>C
  • NM_001368894.2:c.52G>CMANE SELECT
  • NM_001368899.2:c.-357G>C
  • NM_001368900.2:c.-399G>C
  • NM_001368901.2:c.-357G>C
  • NM_001368902.2:c.-688G>C
  • NM_001368903.2:c.-399G>C
  • NM_001368904.2:c.-267-1017G>C
  • NM_001368905.2:c.-730G>C
  • NM_001368906.2:c.-357G>C
  • NM_001368907.2:c.-357G>C
  • NM_001368908.2:c.-399G>C
  • NM_001368909.2:c.-267-1017G>C
  • NM_001368910.2:c.295G>C
  • NM_001368911.2:c.55G>C
  • NM_001368912.2:c.52G>C
  • NM_001368913.2:c.52G>C
  • NM_001368914.2:c.52G>C
  • NM_001368915.2:c.52G>C
  • NM_001368916.2:c.52G>C
  • NM_001368917.2:c.52G>C
  • NM_001368918.2:c.52G>C
  • NM_001368919.2:c.52G>C
  • NM_001368920.2:c.52G>C
  • NM_001368921.2:c.52G>C
  • NM_001368922.2:c.52G>C
  • NM_001368923.2:c.52G>C
  • NM_001368924.2:c.52G>C
  • NM_001368925.2:c.52G>C
  • NM_001368926.2:c.52G>C
  • NM_001368927.2:c.52G>C
  • NM_001368928.2:c.52G>C
  • NM_001368929.2:c.-399G>C
  • NM_001604.6:c.52G>C
  • NP_000271.1:p.Gly18Arg
  • NP_000271.1:p.Gly18Arg
  • NP_001121084.1:p.Gly18Arg
  • NP_001245391.1:p.Gly18Arg
  • NP_001245392.1:p.Gly18Arg
  • NP_001245393.1:p.Gly18Arg
  • NP_001245394.1:p.Gly18Arg
  • NP_001297087.1:p.Gly18Arg
  • NP_001297088.1:p.Gly18Arg
  • NP_001355816.1:p.Gly18Arg
  • NP_001355817.1:p.Gly18Arg
  • NP_001355818.1:p.Gly18Arg
  • NP_001355819.1:p.Gly18Arg
  • NP_001355820.1:p.Gly18Arg
  • NP_001355821.1:p.Gly18Arg
  • NP_001355822.1:p.Gly18Arg
  • NP_001355823.1:p.Gly18Arg
  • NP_001355839.1:p.Gly99Arg
  • NP_001355840.1:p.Gly19Arg
  • NP_001355841.1:p.Gly18Arg
  • NP_001355842.1:p.Gly18Arg
  • NP_001355843.1:p.Gly18Arg
  • NP_001355844.1:p.Gly18Arg
  • NP_001355845.1:p.Gly18Arg
  • NP_001355846.1:p.Gly18Arg
  • NP_001355847.1:p.Gly18Arg
  • NP_001355848.1:p.Gly18Arg
  • NP_001355849.1:p.Gly18Arg
  • NP_001355850.1:p.Gly18Arg
  • NP_001355851.1:p.Gly18Arg
  • NP_001355852.1:p.Gly18Arg
  • NP_001355853.1:p.Gly18Arg
  • NP_001355854.1:p.Gly18Arg
  • NP_001355855.1:p.Gly18Arg
  • NP_001355856.1:p.Gly18Arg
  • NP_001355857.1:p.Gly18Arg
  • NP_001595.2:p.Gly18Arg
  • LRG_720:g.20169G>C
  • NC_000011.9:g.31824341C>G
  • NM_000280.4:c.52G>C
  • NR_160916.2:n.474G>C
  • NR_160917.2:n.521G>C
Protein change:
G18R
Links:
dbSNP: rs886044289
NCBI 1000 Genomes Browser:
rs886044289
Molecular consequence:
  • NM_001310160.2:c.-730G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001310161.3:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368899.2:c.-357G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368900.2:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368901.2:c.-357G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368902.2:c.-688G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368903.2:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368905.2:c.-730G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368906.2:c.-357G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368907.2:c.-357G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368908.2:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368929.2:c.-399G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368904.2:c.-267-1017G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368909.2:c.-267-1017G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000280.6:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127612.3:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258462.3:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258463.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258464.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258465.3:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310158.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310159.1:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368887.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368888.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368889.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368890.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368891.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368892.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368893.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368894.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368910.2:c.295G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368911.2:c.55G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368912.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368913.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368914.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368915.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368916.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368917.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368918.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368919.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368920.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368921.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368922.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368923.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368924.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368925.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368926.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368927.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368928.2:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001604.6:c.52G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160916.2:n.474G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.521G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000344276Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Aug 2, 2016) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

I:\T\Papers and Publications\PAX6\Kim_2008.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

PAX6 in sensory development.

van Heyningen V, Williamson KA.

Hum Mol Genet. 2002 May 15;11(10):1161-7. Review.

PubMed [citation]
PMID:
12015275

Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.

Elvenes J, Sjøttem E, Holm T, Bjørkøy G, Johansen T.

Cell Mol Life Sci. 2010 Dec;67(23):4079-94. doi: 10.1007/s00018-010-0429-0. Epub 2010 Jun 25.

PubMed [citation]
PMID:
20577777
See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000344276.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024