ClinVar

NM_014783.6(ARHGAP11A):c.641C>T (p.Ser214Phe)

Genes:

ARHGAP11A-SCG5:ARHGAP11A-SCG5 readthrough [Gene - HGNC]
ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

• Chr15: 32625169 (on Assembly GRCh38)
• Chr15: 32917370 (on Assembly GRCh37)

Preferred name:

NM_014783.6(ARHGAP11A):c.641C>T (p.Ser214Phe)

HGVS:

• NC_000015.10:g.32625169C>T
• NG_051557.1:g.16437C>T
• NM_001286479.3:c.74C>T
• NM_001286480.3:c.74C>T
• NM_001368319.1:c.641C>T
• NM_014783.6:c.641C>TMANE SELECT
• NM_199357.3:c.641C>T
• NP_001273408.1:p.Ser25Phe
• NP_001273409.1:p.Ser25Phe
• NP_001355248.1:p.Ser214Phe
• NP_055598.1:p.Ser214Phe
• NP_955389.1:p.Ser214Phe
• NC_000015.9:g.32917370C>T
• NM_014783.3:c.641C>T

This HGVS expression did not pass validation

Protein change:

S214F

Molecular consequence:

• NM_001286479.3:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286480.3:c.74C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368319.1:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014783.6:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199357.3:c.641C>T - missense variant - [Sequence Ontology: SO:0001583]