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Variant (rsID / SNP)

rs121912844

COL7A1

rs121912844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,612,852. 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
3:48612852
Cytoband
3p21.31
HGVS
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)
Allele change
Missense_G2034R

Associated conditions / phenotypes

Generalized dominant dystrophic epidermolysis bullosa|Epidermolysis bullosa dystrophica|Generalized dominant dystrophic epidermolysis bullosa|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.