ClinVar

NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)

Gene:

RIT1:Ras like without CAAX 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

• Chr1: 155904496 (on Assembly GRCh38)
• Chr1: 155874287 (on Assembly GRCh37)

Preferred name:

NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)

HGVS:

• NC_000001.11:g.155904496A>G
• NG_033885.1:g.11907T>C
• NM_001256820.2:c.136T>C
• NM_001256821.2:c.295T>C
• NM_006912.6:c.244T>CMANE SELECT
• NP_001243749.1:p.Phe46Leu
• NP_001243750.1:p.Phe99Leu
• NP_008843.1:p.Phe82Leu
• LRG_1372t1:c.244T>C
• LRG_1372:g.11907T>C
• LRG_1372p1:p.Phe82Leu
• NC_000001.10:g.155874287A>G
• NM_001256821.1:c.295T>C
• NM_006912.5:c.244T>C
• Q92963:p.Phe82Leu

This HGVS expression did not pass validation

Protein change:

F46L

Links:

UniProtKB: Q92963#VAR_070152; dbSNP: rs869025194

NCBI 1000 Genomes Browser:

rs869025194

Molecular consequence:

• NM_001256820.2:c.136T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256821.2:c.295T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006912.6:c.244T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1