ClinVar

NM_033409.4(SLC52A3):c.983C>T (p.Ser328Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 763588 (on Assembly GRCh38)
• Chr20: 744232 (on Assembly GRCh37)

Preferred name:

NM_033409.4(SLC52A3):c.983C>T (p.Ser328Phe)

HGVS:

• NC_000020.11:g.763588G>A
• NG_027687.2:g.17398C>T
• NM_001370085.1:c.983C>T
• NM_001370086.1:c.983C>T
• NM_033409.4:c.983C>TMANE SELECT
• NP_001357014.1:p.Ser328Phe
• NP_001357015.1:p.Ser328Phe
• NP_212134.3:p.Ser328Phe
• LRG_1394t1:c.983C>T
• LRG_1394:g.17398C>T
• LRG_1394p1:p.Ser328Phe
• NC_000020.10:g.744232G>A
• NM_033409.3:c.983C>T

This HGVS expression did not pass validation

Protein change:

S328F

Links:

dbSNP: rs2122516303

NCBI 1000 Genomes Browser:

rs2122516303

Molecular consequence:

• NM_001370085.1:c.983C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370086.1:c.983C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033409.4:c.983C>T - missense variant - [Sequence Ontology: SO:0001583]