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Variant (rsID / SNP)

rs780261665

COL7A1

rs780261665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,627,691. Clinical significance in the table: Pathogenic.

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Reference-table entries

COL7A1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:48627691
Cytoband
3p21.31
HGVS
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)
Allele change
Nonsense_R669X

Associated conditions / phenotypes

Palmoplantar blistering|Short stature|Toe syndactyly|Finger syndactyly|Anonychia|Skin erosion|Abnormality of the skin|Nail dystrophy|Abnormal blistering of the skin|Epidermolysis bullosa pruriginosa|Recessive dystrophic epidermolysis bullosa

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.