Variant (rsID / SNP)

rs147962513

rs147962513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KRT74. Location: chromosome 12, position 52,965,165. Clinical significance in the table: Benign.

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Reference-table entries

KRT74Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:52965165
Cytoband: 12q13.13
HGVS: NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)
Allele change: Missense_F274S

Associated conditions / phenotypes

Ectodermal dysplasia 4, hair/nail type|Ectodermal dysplasia 7, hair/nail type

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.