Original source

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

Alleles
C/G/T|Ancestral: C|Ambiguity code: B|MAF: < 0.01 (G)
Location

Chromosome 14:50913028 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CS982337, CS117192

Most severe consequence
 
Splice donor variant
Evidence status

Clinical significance

Synonyms

LSDB NM_002863.3:c.1620+1G>A

HGVS names

This variant has 10 HGVS names - Hide

Variant allele T
14:g.50913028C>T
ENST00000216392.7:c.1620+1G>A
ENST00000532462.5:c.1620+1G>A
ENST00000544180.6:c.1518+1G>A
ENST00000557343.1:n.205C>T

Variant allele G
14:g.50913028C>G
ENST00000216392.7:c.1620+1G>C
ENST00000532462.5:c.1620+1G>C
ENST00000544180.6:c.1518+1G>C
ENST00000557343.1:n.205C>G

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays