ClinVar

NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 33438885 (on Assembly GRCh38)
• Chr20: 32026691 (on Assembly GRCh37)

Preferred name:

NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)

HGVS:

• NC_000020.11:g.33438885G>A
• NG_011622.1:g.10008C>T
• NM_003098.3:c.452C>TMANE SELECT
• NP_003089.1:p.Ala151Val
• NP_003089.1:p.Ala151Val
• LRG_332t1:c.452C>T
• LRG_332:g.10008C>T
• LRG_332p1:p.Ala151Val
• NC_000020.10:g.32026691G>A
• NM_003098.2:c.452C>T

This HGVS expression did not pass validation

Protein change:

A151V

Links:

dbSNP: rs772936861

NCBI 1000 Genomes Browser:

rs772936861

Molecular consequence:

• NM_003098.3:c.452C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1