Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 1:226888977 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM951088

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

This variant has 13 HGVS names - click the plus to show

1:g.226888977A>G
ENST00000422240.6:c.715A>G
ENSP00000403737.2:p.Met239Val
ENST00000366782.5:c.814A>G
ENSP00000355746.1:p.Met272Val
ENST00000472139.2:c.283A>G
ENSP00000427806.1:p.Met95Val
ENST00000460775.5:c.196A>G
ENSP00000427912.1:p.Met66Val
ENST00000366783.7:c.715A>G
ENSP00000355747.3:p.Met239Val
ENST00000626989.2:c.814A>G
ENSP00000486498.1:p.Met272Val

About this variant

This variant overlaps 9 transcripts and is associated with 4 phenotypes.

Variant displays