ClinVar

NM_001025598.2(ARHGAP30):c.2621G>A (p.Cys874Tyr)

Gene:

ARHGAP30:Rho GTPase activating protein 30 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

• Chr1: 161048400 (on Assembly GRCh38)
• Chr1: 161018190 (on Assembly GRCh37)

Preferred name:

NM_001025598.2(ARHGAP30):c.2621G>A (p.Cys874Tyr)

HGVS:

• NC_000001.11:g.161048400C>T
• NG_011612.1:g.2568G>A
• NM_001025598.2:c.2621G>AMANE SELECT
• NM_001287600.2:c.2177G>A
• NM_001287602.2:c.2090G>A
• NM_181720.3:c.2033-45G>A
• NP_001020769.1:p.Cys874Tyr
• NP_001274529.1:p.Cys726Tyr
• NP_001274531.1:p.Cys697Tyr
• NC_000001.10:g.161018190C>T
• NM_001025598.1:c.2621G>A

This HGVS expression did not pass validation

Protein change:

C697Y

Molecular consequence:

• NM_181720.3:c.2033-45G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001025598.2:c.2621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287600.2:c.2177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287602.2:c.2090G>A - missense variant - [Sequence Ontology: SO:0001583]