ClinVar

NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119026635 (on Assembly GRCh38)
• Chr11: 118897345 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)

HGVS:

• NC_000011.10:g.119026635C>G
• NG_013331.1:g.9271G>C
• NM_001164277.2:c.838G>CMANE SELECT
• NM_001164278.2:c.838G>C
• NM_001164279.2:c.619G>C
• NM_001164280.2:c.838G>C
• NM_001467.6:c.838G>C
• NP_001157749.1:p.Ala280Pro
• NP_001157749.1:p.Ala280Pro
• NP_001157750.1:p.Ala280Pro
• NP_001157751.1:p.Ala207Pro
• NP_001157752.1:p.Ala280Pro
• NP_001458.1:p.Ala280Pro
• LRG_187t1:c.838G>C
• LRG_187:g.9271G>C
• LRG_187p1:p.Ala280Pro
• NC_000011.9:g.118897345C>G
• NM_001164277.1:c.838G>C

This HGVS expression did not pass validation

Protein change:

A207P

Links:

dbSNP: rs1555190969

NCBI 1000 Genomes Browser:

rs1555190969

Molecular consequence:

• NM_001164277.2:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.619G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.838G>C - missense variant - [Sequence Ontology: SO:0001583]