ClinVar

NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119027035 (on Assembly GRCh38)
• Chr11: 118897745 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.686T>C (p.Leu229Pro)

HGVS:

• NC_000011.10:g.119027035A>G
• NG_013331.1:g.8871T>C
• NM_001164277.2:c.686T>C
• NM_001164278.2:c.686T>C
• NM_001164279.2:c.467T>C
• NM_001164280.2:c.686T>C
• NM_001467.6:c.686T>C
• NP_001157749.1:p.Leu229Pro
• NP_001157749.1:p.Leu229Pro
• NP_001157750.1:p.Leu229Pro
• NP_001157751.1:p.Leu156Pro
• NP_001157752.1:p.Leu229Pro
• NP_001458.1:p.Leu229Pro
• LRG_187t1:c.686T>C
• LRG_187:g.8871T>C
• LRG_187p1:p.Leu229Pro
• NC_000011.9:g.118897745A>G
• NM_001164277.1:c.686T>C

This HGVS expression did not pass validation

Protein change:

L156P

Links:

UniProtKB/Swiss-Prot: VAR_025597; dbSNP: rs193302902

NCBI 1000 Genomes Browser:

rs193302902

Molecular consequence:

• NM_001164277.2:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.686T>C - missense variant - [Sequence Ontology: SO:0001583]