Variant (rsID / SNP)

rs2708912

rs2708912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C7ORF57, C7orf57. Location: chromosome 7, position 48,086,077. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

C7ORF57Not classified

Variant type: missense_variant
Chromosome / position: 7:48086077
HGVS: NM_001100159.3,c.371C>T,p.Pro124Leu
Allele change: Missense_P124L

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.