ClinVar

NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 765766 (on Assembly GRCh38)
• Chr20: 746410 (on Assembly GRCh37)

Preferred name:

NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)

HGVS:

• NC_000020.11:g.765766G>A
• NG_027687.2:g.15220C>T
• NM_001370085.1:c.9C>T
• NM_001370086.1:c.9C>T
• NM_033409.4:c.9C>TMANE SELECT
• NP_001357014.1:p.Phe3=
• NP_001357015.1:p.Phe3=
• NP_212134.3:p.Phe3=
• LRG_1394t1:c.9C>T
• LRG_1394:g.15220C>T
• LRG_1394p1:p.Phe3=
• NC_000020.10:g.746410G>A
• NG_027687.1:g.7819C>T
• NM_033409.3:c.9C>T
• p.Phe3Phe

This HGVS expression did not pass validation

Links:

dbSNP: rs139486822

NCBI 1000 Genomes Browser:

rs139486822

Molecular consequence:

• NM_001370085.1:c.9C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370086.1:c.9C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033409.4:c.9C>T - synonymous variant - [Sequence Ontology: SO:0001819]