ClinVar

NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74196047 (on Assembly GRCh38)
• Chr15: 74488388 (on Assembly GRCh37)

Preferred name:

NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)

HGVS:

• NC_000015.10:g.74196047C>G
• NG_009207.1:g.17984G>C
• NM_001142617.2:c.367G>C
• NM_001142618.2:c.367G>C
• NM_001142619.2:c.340G>C
• NM_001142620.2:c.367G>C
• NM_001199040.2:c.478G>C
• NM_001199041.2:c.412G>C
• NM_001199042.2:c.484G>C
• NM_022369.4:c.367G>CMANE SELECT
• NP_001136089.1:p.Ala123Pro
• NP_001136090.1:p.Ala123Pro
• NP_001136091.1:p.Ala114Pro
• NP_001136092.1:p.Ala123Pro
• NP_001185969.1:p.Ala160Pro
• NP_001185970.1:p.Ala138Pro
• NP_001185971.1:p.Ala162Pro
• NP_071764.3:p.Ala123Pro
• NC_000015.9:g.74488388C>G
• NM_022369.3:c.367G>C

This HGVS expression did not pass validation

Protein change:

A114P

Links:

dbSNP: rs115067613

NCBI 1000 Genomes Browser:

rs115067613

Molecular consequence:

• NM_001142617.2:c.367G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142618.2:c.367G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142619.2:c.340G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142620.2:c.367G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199040.2:c.478G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199041.2:c.412G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199042.2:c.484G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022369.4:c.367G>C - missense variant - [Sequence Ontology: SO:0001583]