Original source

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

Alleles
C/A/G|Ancestral: C|Ambiguity code: V|MAF: < 0.01 (A)
Location

Chromosome 1:173904038 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM890017, CM910058

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

Variant allele A
1:g.173904038C>A
ENST00000367698.3:c.1246G>T
ENSP00000356671.3:p.Ala416Ser
ENST00000617423.4:c.631G>T
ENSP00000478688.1:p.Ala211Ser
LRG_577:g.18341G>T
LRG_577t1:c.1246G>T
LRG_577p1:p.Ala416Ser

Variant allele G
1:g.173904038C>G
ENST00000367698.3:c.1246G>C
ENSP00000356671.3:p.Ala416Pro
ENST00000617423.4:c.631G>C
ENSP00000478688.1:p.Ala211Pro
LRG_577:g.18341G>C
LRG_577t1:c.1246G>C
LRG_577p1:p.Ala416Pro

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes, is associated with 6 phenotypes and is mentioned in 1 citation.

Variant displays