ClinVar

NM_014808.4(FARP2):c.1595C>T (p.Pro532Leu)

Gene:

FARP2:FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 241462530 (on Assembly GRCh38)
• Chr2: 242401945 (on Assembly GRCh37)

Preferred name:

NM_014808.4(FARP2):c.1595C>T (p.Pro532Leu)

HGVS:

• NC_000002.12:g.241462530C>T
• NM_001282983.2:c.1595C>T
• NM_001282984.2:c.1595C>T
• NM_014808.4:c.1595C>TMANE SELECT
• NP_001269912.1:p.Pro532Leu
• NP_001269913.1:p.Pro532Leu
• NP_055623.1:p.Pro532Leu
• NC_000002.11:g.242401945C>T
• NM_014808.2:c.1595C>T

This HGVS expression did not pass validation

Protein change:

P532L

Molecular consequence:

• NM_001282983.2:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282984.2:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014808.4:c.1595C>T - missense variant - [Sequence Ontology: SO:0001583]