NM_000094.3(COL7A1):c.5548C>T (p.Pro1850Ser) AND Dystrophic epidermolysis bullosa

Clinical significance:Uncertain significance (Last evaluated: Jan 17, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001275992.1

Allele description [Variation Report for NM_000094.3(COL7A1):c.5548C>T (p.Pro1850Ser)]

NM_000094.3(COL7A1):c.5548C>T (p.Pro1850Ser)

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.5548C>T (p.Pro1850Ser)
HGVS:
  • NC_000003.12:g.48577012G>A
  • NG_007065.1:g.23241C>T
  • NM_000094.3:c.5548C>T
  • NP_000085.1:p.Pro1850Ser
  • LRG_286t1:c.5548C>T
  • LRG_286:g.23241C>T
  • LRG_286p1:p.Pro1850Ser
  • NC_000003.11:g.48614445G>A
Protein change:
P1850S
Links:
dbSNP: rs761604061
NCBI 1000 Genomes Browser:
rs761604061
Molecular consequence:
  • NM_000094.3:c.5548C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dystrophic epidermolysis bullosa
Synonyms:
Epidermolysis Bullosa Dystrophica; Severe generalized recessive dystrophic epidermolysis bullosa; RDEB-sev gen; See all synonyms [MedGen]
Identifiers:
MedGen: C0079294

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001461695Natera, Inc.no assertion criteria providedUncertain significance
(Jan 17, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001461695.1

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

Last Updated: Jun 6, 2021

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