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Variant (rsID / SNP)

rs142566193

COL7A1

rs142566193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,603,736. Clinical significance in the table: Uncertain significance.

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Reference-table entries

COL7A1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:48603736
Cytoband
3p21.31
HGVS
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp)
Allele change
Missense_R2791W

Associated conditions / phenotypes

Recessive dystrophic epidermolysis bullosa|Inborn genetic diseases|Epidermolysis bullosa dystrophica|Epidermolysis bullosa dystrophica inversa, autosomal recessive

Public references

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