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
A/C/G/T | Ancestral: A | Ambiguity code: N | MAF: 0.29 (C)
Location

Chromosome 1:154454494 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034737

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 24 HGVS names - click the plus to show

Variant allele T
1:g.154454494A>T
ENST00000507256.1:n.271A>T
ENST00000368485.6:c.1073A>T
ENSP00000357470.3:p.Asp358Val
ENST00000344086.7:c.1066+4514A>T
ENST00000502679.1:n.386A>T
ENST00000515190.1:c.481A>T
ENSP00000423036.1:p.Asp161Val

Variant allele C
1:g.154454494A>C
ENST00000507256.1:n.271A>C
ENST00000368485.6:c.1073A>C
ENSP00000357470.3:p.Asp358Ala
ENST00000344086.7:c.1066+4514A>C
ENST00000502679.1:n.386A>C
ENST00000515190.1:c.481A>C
ENSP00000423036.1:p.Asp161Ala

Variant allele G
1:g.154454494A>G
ENST00000507256.1:n.271A>G
ENST00000368485.6:c.1073A>G
ENSP00000357470.3:p.Asp358Gly
ENST00000344086.7:c.1066+4514A>G
ENST00000502679.1:n.386A>G
ENST00000515190.1:c.481A>G
ENSP00000423036.1:p.Asp161Gly

This variation has assays on 9 chips - click the plus to show

About this variant

This variant overlaps 18 transcripts, has 3991 individual genotypes, is associated with 4 phenotypes and is mentioned in 82 citations.

Variation displays