This variation has been flagged

Variation has more than 3 different alleles

Original source

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

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

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

Co-located

with HGMD-PUBLIC CM910058, CM890017

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 15 HGVS names - click the plus to show

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

Variant allele T
1:g.173904038C>T
ENST00000367698.3:c.1246G>A
ENSP00000356671.3:p.Ala416Thr
ENST00000617423.3:c.631G>A
ENSP00000478688.1:p.Ala211Thr

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

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 9 transcripts, has 2504 individual genotypes and is associated with 5 phenotypes.

Variation displays