ClinVar

NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)

Gene:

FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p13.2

Genomic location:

• Chr9: 37731015 (on Assembly GRCh38)
• Chr9: 37731012 (on Assembly GRCh37)

Preferred name:

NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)

HGVS:

• NC_000009.12:g.37731015G>A
• NM_001371223.1:c.770G>A
• NM_001371224.1:c.770G>A
• NM_001371225.1:c.770G>A
• NM_014907.3:c.770G>AMANE SELECT
• NP_001358152.1:p.Arg257His
• NP_001358153.1:p.Arg257His
• NP_001358154.1:p.Arg257His
• NP_055722.2:p.Arg257His
• NC_000009.11:g.37731012G>A
• NM_014907.2:c.770G>A

This HGVS expression did not pass validation

Protein change:

R257H

Links:

dbSNP: rs148192224

Molecular consequence:

• NM_001371223.1:c.770G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371224.1:c.770G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371225.1:c.770G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014907.3:c.770G>A - missense variant - [Sequence Ontology: SO:0001583]