ClinVar

NM_013341.5(OLA1):c.787T>G (p.Phe263Val)

Gene:

OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 174082006 (on Assembly GRCh38)
• Chr2: 174946734 (on Assembly GRCh37)

Preferred name:

NM_013341.5(OLA1):c.787T>G (p.Phe263Val)

HGVS:

• NC_000002.12:g.174082006A>C
• NG_051001.1:g.171665T>G
• NM_001011708.3:c.313T>G
• NM_001328688.2:c.729-5T>G
• NM_013341.5:c.787T>GMANE SELECT
• NP_001011708.1:p.Phe105Val
• NP_037473.3:p.Phe263Val
• NC_000002.11:g.174946734A>C
• NM_001011708.1:c.313T>G

This HGVS expression did not pass validation

Protein change:

F105V

Links:

dbSNP: rs193920787

NCBI 1000 Genomes Browser:

rs193920787

Molecular consequence:

• NM_001328688.2:c.729-5T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001011708.3:c.313T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_013341.5:c.787T>G - missense variant - [Sequence Ontology: SO:0001583]