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NM_001848.3(COL6A1):c.1002+44_1002+82del AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 7, 2012
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:
RCV000079734.7

Allele description [Variation Report for NM_001848.3(COL6A1):c.1002+44_1002+82del]

NM_001848.3(COL6A1):c.1002+44_1002+82del

Gene:
COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001848.3(COL6A1):c.1002+44_1002+82del
HGVS:
  • NC_000021.9:g.45990466_45990504del
  • NG_008674.1:g.13718_13756del
  • NM_001848.3:c.1002+44_1002+82delMANE SELECT
  • LRG_475:g.13718_13756del
  • NC_000021.8:g.47410380_47410418del
  • NM_001848.2:c.1002+43_1002+81delAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGA
Links:
dbSNP: rs72435610
NCBI 1000 Genomes Browser:
rs72435610
Molecular consequence:
  • NM_001848.3:c.1002+44_1002+82del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000111617Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Sep 7, 2012)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111617.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 1, 2023