Variant (rsID / SNP)
rs61630004
rs61630004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT85. Location: chromosome 12, position 52,760,957. Clinical significance in the table: Benign.
Reference-table entries
KRT85Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52760957
- Cytoband
- 12q13.13
- HGVS
- NM_002283.4(KRT85):c.233G>A (p.Arg78His)
- Allele change
- Missense_R78H
Associated conditions / phenotypes
Ectodermal dysplasia 4, hair/nail type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.