ClinVar

NM_001040118.3(ARAP1):c.4277G>A (p.Arg1426Gln)

Gene:

ARAP1:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 72686100 (on Assembly GRCh38)
• Chr11: 72397145 (on Assembly GRCh37)

Preferred name:

NM_001040118.3(ARAP1):c.4277G>A (p.Arg1426Gln)

HGVS:

• NC_000011.10:g.72686100C>T
• NM_001040118.3:c.4277G>AMANE SELECT
• NM_001135190.2:c.3326G>A
• NM_001369489.1:c.3509G>A
• NM_015242.5:c.3542G>A
• NM_139181.2:c.3542G>A
• NP_001035207.1:p.Arg1426Gln
• NP_001128662.1:p.Arg1109Gln
• NP_001356418.1:p.Arg1170Gln
• NP_056057.2:p.Arg1181Gln
• NP_631920.1:p.Arg1181Gln
• NC_000011.9:g.72397145C>T
• NM_001040118.2:c.4277G>A
• NR_161388.1:n.3957G>A

This HGVS expression did not pass validation

Protein change:

R1109Q

Molecular consequence:

• NM_001040118.3:c.4277G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135190.2:c.3326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369489.1:c.3509G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015242.5:c.3542G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_139181.2:c.3542G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_161388.1:n.3957G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]