ClinVar

NM_003476.5(CSRP3):c.336G>A (p.Ala112=)

Gene:

CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 19186294 (on Assembly GRCh38)
• Chr11: 19207841 (on Assembly GRCh37)

Preferred name:

NM_003476.5(CSRP3):c.336G>A (p.Ala112=)

Other names:

p.A112A:GCG>GCA

HGVS:

• NC_000011.10:g.19186294C>T
• NG_011932.2:g.29280G>A
• NM_001369404.1:c.167G>A
• NM_003476.5:c.336G>AMANE SELECT
• NP_001356333.1:p.Arg56Gln
• NP_003467.1:p.Ala112=
• LRG_440t1:c.336G>A
• LRG_440:g.29280G>A
• NC_000011.9:g.19207841C>T
• NM_003476.3:c.336G>A
• NM_003476.4:c.336G>A
• c.336G>A
• p.Ala112Ala

This HGVS expression did not pass validation

Protein change:

R56Q

Links:

dbSNP: rs13451

NCBI 1000 Genomes Browser:

rs13451

Molecular consequence:

• NM_001369404.1:c.167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003476.5:c.336G>A - synonymous variant - [Sequence Ontology: SO:0001819]