ClinVar

NM_003476.5(CSRP3):c.437G>A (p.Arg146His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 19185023 (on Assembly GRCh38)
• Chr11: 19206570 (on Assembly GRCh37)

Preferred name:

NM_003476.5(CSRP3):c.437G>A (p.Arg146His)

HGVS:

• NC_000011.10:g.19185023C>T
• NG_011932.2:g.30551G>A
• NM_001369404.1:c.268G>A
• NM_003476.5:c.437G>AMANE SELECT
• NP_001356333.1:p.Ala90Thr
• NP_003467.1:p.Arg146His
• LRG_440t1:c.437G>A
• LRG_440:g.30551G>A
• NC_000011.9:g.19206570C>T
• NM_003476.3:c.437G>A
• NM_003476.4:c.437G>A

This HGVS expression did not pass validation

Protein change:

A90T

Links:

dbSNP: rs377066670

NCBI 1000 Genomes Browser:

rs377066670

Molecular consequence:

• NM_001369404.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003476.5:c.437G>A - missense variant - [Sequence Ontology: SO:0001583]