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NM_001142459.2(ASB10):c.105T>G (p.Ser35=) AND Glaucoma 1, open angle, F

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000086420.1

Allele description [Variation Report for NM_001142459.2(ASB10):c.105T>G (p.Ser35=)]

NM_001142459.2(ASB10):c.105T>G (p.Ser35=)

Gene:
ASB10:ankyrin repeat and SOCS box containing 10 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_001142459.2(ASB10):c.105T>G (p.Ser35=)
HGVS:
  • NC_000007.14:g.151187026A>C
  • NG_017016.1:g.5807T>G
  • NM_001142459.2:c.105T>GMANE SELECT
  • NM_001142460.1:c.105T>G
  • NM_080871.4:c.272-367T>G
  • NP_001135931.2:p.Ser35=
  • NP_001135932.2:p.Ser35=
  • NC_000007.13:g.150884113A>C
  • NM_001142459.1:c.105T>G
Links:
dbSNP: rs151344620
NCBI 1000 Genomes Browser:
rs151344620
Molecular consequence:
  • NM_080871.4:c.272-367T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001142459.2:c.105T>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001142460.1:c.105T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Glaucoma 1, open angle, F (GLC1F)
Identifiers:
MedGen: C1863926; OMIM: 603383

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000118568Casey Eye Institute Glaucoma Genetics Lab
no classification provided
not providednot providednot provided

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL.

Arch Ophthalmol. 1999 Feb;117(2):237-41.

PubMed [citation]
PMID:
10037570

Details of each submission

From Casey Eye Institute Glaucoma Genetics Lab , SCV000118568.1

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

Last Updated: Jan 15, 2023