Original source

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

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

Chromosome 2:98396811 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1024216 ; HGMD-PUBLIC CM980380

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8881, 2010_April_001_021_CNGA3_600053_0006

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
2:g.98396811C>A
ENST00000409937.1:c.1653C>A
ENSP00000386761.1:p.Phe551Leu
ENST00000436404.6:c.1587C>A
ENSP00000410070.2:p.Phe529Leu
ENST00000393504.5:c.1641C>A
ENSP00000377140.1:p.Phe547Leu
ENST00000272602.6:c.1641C>A
ENSP00000272602.2:p.Phe547Leu

Variant allele T
2:g.98396811C>T
ENST00000409937.1:c.1653C>T
ENST00000409937.1:c.1653C>T(p.=)
ENST00000436404.6:c.1587C>T
ENST00000436404.6:c.1587C>T(p.=)
ENST00000393504.5:c.1641C>T
ENST00000393504.5:c.1641C>T(p.=)
ENST00000272602.6:c.1641C>T
ENST00000272602.6:c.1641C>T(p.=)

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 8 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays