ClinVar

NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 19182720 (on Assembly GRCh38)
• Chr11: 19204267 (on Assembly GRCh37)

Preferred name:

NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)

HGVS:

• NC_000011.10:g.19182720T>C
• NG_011932.2:g.32854A>G
• NM_001369404.1:c.366A>G
• NM_003476.5:c.535A>GMANE SELECT
• NP_001356333.1:p.Pro122=
• NP_003467.1:p.Thr179Ala
• LRG_440t1:c.535A>G
• LRG_440:g.32854A>G
• NC_000011.9:g.19204267T>C
• NM_003476.3:c.535A>G
• NM_003476.4:c.535A>G
• c.535A>G

This HGVS expression did not pass validation

Protein change:

T179A

Links:

dbSNP: rs397516859

NCBI 1000 Genomes Browser:

rs397516859

Molecular consequence:

• NM_003476.5:c.535A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369404.1:c.366A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1