Variant (rsID / SNP)

rs121912836

rs121912836 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL7A1. Location: chromosome 3, position 48,612,825. 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: 3:48612825
Cytoband: 3p21.31
HGVS: NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
Allele change: Missense_G2043R

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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