ClinVar

NM_003098.3(SNTA1):c.993C>T (p.Arg331=)

Gene:

SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 33412343 (on Assembly GRCh38)
• Chr20: 32000149 (on Assembly GRCh37)

Preferred name:

NM_003098.3(SNTA1):c.993C>T (p.Arg331=)

HGVS:

• NC_000020.11:g.33412343G>A
• NG_011622.1:g.36550C>T
• NM_003098.3:c.993C>TMANE SELECT
• NP_003089.1:p.Arg331=
• NP_003089.1:p.Arg331=
• LRG_332t1:c.993C>T
• LRG_332:g.36550C>T
• LRG_332p1:p.Arg331=
• NC_000020.10:g.32000149G>A
• NM_003098.2:c.993C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143309917

NCBI 1000 Genomes Browser:

rs143309917

Molecular consequence:

• NM_003098.3:c.993C>T - synonymous variant - [Sequence Ontology: SO:0001819]