ClinVar

NM_022369.4(STRA6):c.591G>A (p.Val197=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74195308 (on Assembly GRCh38)
• Chr15: 74487649 (on Assembly GRCh37)

Preferred name:

NM_022369.4(STRA6):c.591G>A (p.Val197=)

HGVS:

• NC_000015.10:g.74195308C>T
• NG_009207.1:g.18723G>A
• NM_001142617.2:c.591G>A
• NM_001142618.2:c.591G>A
• NM_001142619.2:c.564G>A
• NM_001142620.2:c.*294G>A
• NM_001199040.2:c.702G>A
• NM_001199041.2:c.636G>A
• NM_001199042.2:c.708G>A
• NM_022369.4:c.591G>AMANE SELECT
• NP_001136089.1:p.Val197=
• NP_001136090.1:p.Val197=
• NP_001136091.1:p.Val188=
• NP_001185969.1:p.Val234=
• NP_001185970.1:p.Val212=
• NP_001185971.1:p.Val236=
• NP_071764.3:p.Val197=
• NC_000015.9:g.74487649C>T
• NM_022369.3:c.591G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138499753

NCBI 1000 Genomes Browser:

rs138499753

Molecular consequence:

• NM_001142620.2:c.*294G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001142617.2:c.591G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142618.2:c.591G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142619.2:c.564G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199040.2:c.702G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199041.2:c.636G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199042.2:c.708G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022369.4:c.591G>A - synonymous variant - [Sequence Ontology: SO:0001819]