ClinVar

NM_001025616.3(ARHGAP24):c.416A>T (p.Asp139Val)

Gene:

ARHGAP24:Rho GTPase activating protein 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.23

Genomic location:

• Chr4: 85942090 (on Assembly GRCh38)
• Chr4: 86863243 (on Assembly GRCh37)

Preferred name:

NM_001025616.3(ARHGAP24):c.416A>T (p.Asp139Val)

HGVS:

• NC_000004.12:g.85942090A>T
• NG_051627.1:g.471960A>T
• NM_001025616.3:c.416A>TMANE SELECT
• NM_001042669.2:c.131A>T
• NM_001287805.2:c.161A>T
• NM_001346093.2:c.20+18320A>T
• NM_031305.3:c.137A>T
• NP_001020787.2:p.Asp139Val
• NP_001036134.1:p.Asp44Val
• NP_001274734.1:p.Asp54Val
• NP_112595.2:p.Asp46Val
• NC_000004.11:g.86863243A>T

This HGVS expression did not pass validation

Protein change:

D139V

Molecular consequence:

• NM_001346093.2:c.20+18320A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001025616.3:c.416A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042669.2:c.131A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287805.2:c.161A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031305.3:c.137A>T - missense variant - [Sequence Ontology: SO:0001583]