Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:209799066 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM941034

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 7 HGVS names - click the plus to show

1:g.209799066G>A
ENST00000356082.4:c.1903C>T
ENSP00000348384.3:p.Arg635Ter
ENST00000391911.1:c.1903C>T
ENSP00000375778.1:p.Arg635Ter
ENST00000367030.3:c.1903C>T
ENSP00000355997.3:p.Arg635Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays