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NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) AND Epidermolysis bullosa, junctional, localisata variant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000019218.29

Allele description

NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)

Gene:
COL17A1:collagen type XVII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.1
Genomic location:
Preferred name:
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)
HGVS:
  • NC_000010.11:g.104034193C>T
  • NG_007069.1:g.56688G>A
  • NM_000494.4:c.3908G>AMANE SELECT
  • NP_000485.3:p.Arg1303Gln
  • LRG_1249t1:c.3908G>A
  • LRG_1249:g.56688G>A
  • LRG_1249p1:p.Arg1303Gln
  • NC_000010.10:g.105793951C>T
  • NM_000494.3:c.3908G>A
  • Q9UMD9:p.Arg1303Gln
Protein change:
R1303Q; ARG1303GLN
Links:
UniProtKB: Q9UMD9#VAR_017601; OMIM: 113811.0006; dbSNP: rs121912771
NCBI 1000 Genomes Browser:
rs121912771
Molecular consequence:
  • NM_000494.4:c.3908G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa, junctional, localisata variant
Identifiers:
MedGen: C2608084

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039506OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 1997) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, Bruckner-Tuderman L.

Am J Hum Genet. 1997 Jun;60(6):1344-53.

PubMed [citation]
PMID:
9199555
PMCID:
PMC1716115

Details of each submission

From OMIM, SCV000039506.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Schumann et al. (1997) demonstrated homozygosity for an arg1303-to-gln (R1303Q) mutation of the COL17A1 gene in a 53-year-old male, the offspring of third-cousin parents, who had trauma-induced blistering of the skin since school age but developed an overall milder phenotype, with blistering predominantly of the distal extremities and, occasionally, of the oral mucosa (see 226650). During the course of the disease, all nails were lost, and mild skin atrophy developed on the extremities. Electron microscopy showed slight structural alterations of the hemidesmosomes. The amino acid substitution was the result of a 4013G-A transition; his unaffected daughter was heterozygous for the mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2022