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
Location

Chromosome 11:64751970 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032352

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 15738

This variation has 16 HGVS names - click the plus to show

Variant allele T
11:g.64751970A>T
ENST00000462303.1:n.46T>A
ENST00000164139.3:c.1722T>A
ENSP00000164139.3:p.Tyr574Ter
ENST00000377432.6:c.1458T>A
ENSP00000366650.3:p.Tyr486Ter

Variant allele C
11:g.64751970A>C
ENST00000462303.1:n.46T>G
ENST00000164139.3:c.1722T>G
ENSP00000164139.3:p.Tyr574Ter
ENST00000377432.6:c.1458T>G
ENSP00000366650.3:p.Tyr486Ter

Variant allele G
11:g.64751970A>G
ENST00000462303.1:n.46T>C
ENST00000164139.3:c.1722T>C
ENST00000377432.6:c.1458T>C

About this variant

This variant overlaps 15 transcripts and is associated with 2 phenotypes.

Variation displays