ClinVar

NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)

Gene:

SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 763768 (on Assembly GRCh38)
• Chr20: 744412 (on Assembly GRCh37)

Preferred name:

NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)

HGVS:

• NC_000020.11:g.763768C>T
• NG_027687.2:g.17218G>A
• NM_001370085.1:c.803G>A
• NM_001370086.1:c.803G>A
• NM_033409.4:c.803G>AMANE SELECT
• NP_001357014.1:p.Arg268Gln
• NP_001357015.1:p.Arg268Gln
• NP_212134.3:p.Arg268Gln
• LRG_1394t1:c.803G>A
• LRG_1394:g.17218G>A
• LRG_1394p1:p.Arg268Gln
• NC_000020.10:g.744412C>T
• NG_027687.1:g.9817G>A
• NM_033409.3:c.803G>A

This HGVS expression did not pass validation

Protein change:

R268Q

Links:

dbSNP: rs111912321

NCBI 1000 Genomes Browser:

rs111912321

Molecular consequence:

• NM_001370085.1:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370086.1:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033409.4:c.803G>A - missense variant - [Sequence Ontology: SO:0001583]