NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622440.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)]

NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)

Gene:
COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_000094.3(COL7A1):c.6007G>A (p.Gly2003Arg)
HGVS:
  • NC_000003.12:g.48575512C>T
  • NG_007065.1:g.24741G>A
  • NM_000094.3:c.6007G>A
  • NP_000085.1:p.Gly2003Arg
  • LRG_286t1:c.6007G>A
  • LRG_286:g.24741G>A
  • LRG_286p1:p.Gly2003Arg
  • NC_000003.11:g.48612945C>T
  • Q02388:p.Gly2003Arg
Protein change:
G2003R; GLY2003ARG
Links:
UniProtKB: Q02388#VAR_001815; OMIM: 120120.0008; dbSNP: rs121912832
NCBI 1000 Genomes Browser:
rs121912832
Molecular consequence:
  • NM_000094.3:c.6007G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740971Ambry Geneticscriteria provided, single submitter
Pathogenic
(Sep 1, 2015)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Unknowngermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.

Christiano AM, Bart BJ, Epstein EH Jr, Uitto J.

J Invest Dermatol. 1996 Apr;106(4):778-80. Corrected and republished in: J Invest Dermatol. 1996 Jun;106(6):1340-2.

PubMed [citation]
PMID:
8618021

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.

Cserhalmi-Friedman PB, Garzon MC, Guzman E, Martinez-Mir A, Chung WK, Anyane-Yeboa K, Christiano AM.

J Invest Dermatol. 2001 Nov;117(5):1327-8. No abstract available.

PubMed [citation]
PMID:
11710955
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000740971.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Unknown1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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