ClinVar

NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)

Gene:

SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 6704000 (on Assembly GRCh38)
• Chr17: 6607319 (on Assembly GRCh37)

Preferred name:

NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)

Other names:

NM_177550.4(SLC13A5):c.425C>T; p.Thr142Met

HGVS:

• NC_000017.11:g.6704000G>A
• NG_034220.1:g.14422C>T
• NM_001143838.3:c.425C>T
• NM_001284509.2:c.374C>T
• NM_001284510.2:c.296C>T
• NM_177550.5:c.425C>TMANE SELECT
• NP_001137310.1:p.Thr142Met
• NP_001271438.1:p.Thr125Met
• NP_001271439.1:p.Thr99Met
• NP_808218.1:p.Thr142Met
• NP_808218.1:p.Thr142Met
• LRG_1020t1:c.425C>T
• LRG_1020:g.14422C>T
• LRG_1020p1:p.Thr142Met
• NC_000017.10:g.6607319G>A
• NM_177550.4:c.425C>T

This HGVS expression did not pass validation

Protein change:

T125M; THR142MET

Links:

OMIM: 608305.0007; dbSNP: rs761917087

NCBI 1000 Genomes Browser:

rs761917087

Molecular consequence:

• NM_001143838.3:c.425C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284509.2:c.374C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001284510.2:c.296C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_177550.5:c.425C>T - missense variant - [Sequence Ontology: SO:0001583]