ClinVar

NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119029326 (on Assembly GRCh38)
• Chr11: 118900036 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)

HGVS:

• NC_000011.10:g.119029326G>A
• NG_013331.1:g.6581C>T
• NM_001164277.2:c.44C>TMANE SELECT
• NM_001164278.2:c.44C>T
• NM_001164279.2:c.-172+66C>T
• NM_001164280.2:c.44C>T
• NM_001467.6:c.44C>T
• NP_001157749.1:p.Ser15Leu
• NP_001157749.1:p.Ser15Leu
• NP_001157750.1:p.Ser15Leu
• NP_001157752.1:p.Ser15Leu
• NP_001458.1:p.Ser15Leu
• LRG_187t1:c.44C>T
• LRG_187:g.6581C>T
• LRG_187p1:p.Ser15Leu
• NC_000011.9:g.118900036G>A
• NM_001164277.1:c.44C>T

This HGVS expression did not pass validation

Protein change:

S15L

Links:

dbSNP: rs1555191883

NCBI 1000 Genomes Browser:

rs1555191883

Molecular consequence:

• NM_001164279.2:c.-172+66C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164277.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.44C>T - missense variant - [Sequence Ontology: SO:0001583]