ClinVar

NM_001040118.3(ARAP1):c.2522G>A (p.Trp841Ter)

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: 72699024 (on Assembly GRCh38)
• Chr11: 72410069 (on Assembly GRCh37)

Preferred name:

NM_001040118.3(ARAP1):c.2522G>A (p.Trp841Ter)

HGVS:

• NC_000011.10:g.72699024C>T
• NM_001040118.3:c.2522G>AMANE SELECT
• NM_001135190.2:c.1604G>A
• NM_001369489.1:c.1787G>A
• NM_015242.5:c.1787G>A
• NM_139181.2:c.1787G>A
• NP_001035207.1:p.Trp841Ter
• NP_001128662.1:p.Trp535Ter
• NP_001356418.1:p.Trp596Ter
• NP_056057.2:p.Trp596Ter
• NP_631920.1:p.Trp596Ter
• NC_000011.9:g.72410069C>T
• NR_161388.1:n.2383G>A

This HGVS expression did not pass validation

Protein change:

W535*

Molecular consequence:

• NR_161388.1:n.2383G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001040118.3:c.2522G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001135190.2:c.1604G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001369489.1:c.1787G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_015242.5:c.1787G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_139181.2:c.1787G>A - nonsense - [Sequence Ontology: SO:0001587]