Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/C | Ancestral: G | Ambiguity code: S | MAF: < 0.01 (C)

Chromosome 8:31141680 (forward strand) | View in location tab


with HGMD-PUBLIC CS961715

Most severe consequence
Evidence status

Clinical significance


LSDB NG_008870.1:g.113419G>C_1275968491, NM_000553.4:c.3139-1G>C

This variation has 5 HGVS names - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 1092 individual genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variation displays