Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/C/G|Ancestral: A|Ambiguity code: V
Location

Chromosome 7:22978444 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM063977

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB NM_032581.2:c.158T>C, NM_032581.3:c.158T>C, 16765

HGVS names

This variant has 20 HGVS names - Hide

Variant allele C
7:g.22978444A>C
ENST00000440481.5:c.313T>G
ENSP00000397168.1:p.Leu105Arg
ENST00000409763.1:c.158T>G
ENSP00000386624.1:p.Leu53Arg
ENST00000432176.6:c.158T>G
ENSP00000403396.2:p.Leu53Arg
ENST00000477349.5:n.248T>G
ENST00000409923.5:c.158T>G
ENSP00000386246.1:p.Leu53Arg

Variant allele G
7:g.22978444A>G
ENST00000440481.5:c.313T>C
ENSP00000397168.1:p.Leu105Pro
ENST00000409763.1:c.158T>C
ENSP00000386624.1:p.Leu53Pro
ENST00000432176.6:c.158T>C
ENSP00000403396.2:p.Leu53Pro
ENST00000477349.5:n.248T>C
ENST00000409923.5:c.158T>C
ENSP00000386246.1:p.Leu53Pro

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays