ClinVar

NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119029287 (on Assembly GRCh38)
• Chr11: 118899997 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)

HGVS:

• NC_000011.10:g.119029287C>T
• NG_013331.1:g.6620G>A
• NM_001164277.2:c.83G>A
• NM_001164278.2:c.83G>A
• NM_001164279.2:c.-172+105G>A
• NM_001164280.2:c.83G>A
• NM_001467.6:c.83G>A
• NP_001157749.1:p.Arg28His
• NP_001157749.1:p.Arg28His
• NP_001157750.1:p.Arg28His
• NP_001157752.1:p.Arg28His
• NP_001458.1:p.Arg28His
• LRG_187t1:c.83G>A
• LRG_187:g.6620G>A
• LRG_187p1:p.Arg28His
• NC_000011.9:g.118899997C>T
• NM_001164277.1:c.83G>A

This HGVS expression did not pass validation

Protein change:

R28H; ARG28HIS

Links:

UniProtKB/Swiss-Prot: VAR_016840; OMIM: 602671.0013; dbSNP: rs121908978

NCBI 1000 Genomes Browser:

rs121908978

Molecular consequence:

• NM_001164279.2:c.-172+105G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164277.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.83G>A - missense variant - [Sequence Ontology: SO:0001583]