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
Location

Chromosome 12:40310434 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM044901, CM043518

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

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

Variant allele A
12:g.40310434C>A
ENST00000479187.4:n.1002C>A
ENST00000298910.10:c.4321C>A
ENSP00000298910.7:p.Arg1441Ser
ENST00000430804.4:c.*994C>A

Variant allele T
12:g.40310434C>T
ENST00000479187.4:n.1002C>T
ENST00000298910.10:c.4321C>T
ENSP00000298910.7:p.Arg1441Cys
ENST00000430804.4:c.*994C>T

Variant allele G
12:g.40310434C>G
ENST00000479187.4:n.1002C>G
ENST00000298910.10:c.4321C>G
ENSP00000298910.7:p.Arg1441Gly
ENST00000430804.4:c.*994C>G

Genotyping chips

This variation has assays on: HumanCoreExome-12, Illumina_HumanOmni1-Quad

About this variant

This variant overlaps 12 transcripts, has 2 individual genotypes, is associated with 5 phenotypes and is mentioned in 5 citations.

Variation displays