ClinVar

NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)

Gene:

STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74180171 (on Assembly GRCh38)
• Chr15: 74472512 (on Assembly GRCh37)

Preferred name:

NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)

HGVS:

• NC_000015.10:g.74180171C>G
• NG_009207.1:g.33860G>C
• NM_001142617.2:c.1913G>C
• NM_001142618.2:c.1913G>C
• NM_001142619.2:c.1886G>C
• NM_001199040.2:c.2024G>C
• NM_001199041.2:c.1958G>C
• NM_001199042.2:c.2030G>C
• NM_022369.4:c.1913G>CMANE SELECT
• NP_001136089.1:p.Arg638Pro
• NP_001136090.1:p.Arg638Pro
• NP_001136091.1:p.Arg629Pro
• NP_001185969.1:p.Arg675Pro
• NP_001185970.1:p.Arg653Pro
• NP_001185971.1:p.Arg677Pro
• NP_071764.3:p.Arg638Pro
• NC_000015.9:g.74472512C>G
• NM_022369.3:c.1913G>C
• Q9BX79:p.Arg638Pro

This HGVS expression did not pass validation

Protein change:

R629P

Links:

UniProtKB: Q9BX79#VAR_060205; dbSNP: rs144691445

NCBI 1000 Genomes Browser:

rs144691445

Molecular consequence:

• NM_001142617.2:c.1913G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142618.2:c.1913G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142619.2:c.1886G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199040.2:c.2024G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199041.2:c.1958G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199042.2:c.2030G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022369.4:c.1913G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1