ClinVar

NM_001040118.3(ARAP1):c.2723A>G (p.Lys908Arg)

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: 72697925 (on Assembly GRCh38)
• Chr11: 72408970 (on Assembly GRCh37)

Preferred name:

NM_001040118.3(ARAP1):c.2723A>G (p.Lys908Arg)

HGVS:

• NC_000011.10:g.72697925T>C
• NM_001040118.3:c.2723A>GMANE SELECT
• NM_001135190.2:c.1805A>G
• NM_001369489.1:c.1988A>G
• NM_015242.5:c.1988A>G
• NM_139181.2:c.1988A>G
• NP_001035207.1:p.Lys908Arg
• NP_001128662.1:p.Lys602Arg
• NP_001356418.1:p.Lys663Arg
• NP_056057.2:p.Lys663Arg
• NP_631920.1:p.Lys663Arg
• NC_000011.9:g.72408970T>C
• NM_001040118.2:c.2723A>G
• NR_161388.1:n.2584A>G

This HGVS expression did not pass validation

Protein change:

K602R

Molecular consequence:

• NM_001040118.3:c.2723A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135190.2:c.1805A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369489.1:c.1988A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015242.5:c.1988A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_139181.2:c.1988A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_161388.1:n.2584A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]