ClinVar

NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)

Gene:

SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71322827 (on Assembly GRCh38)
• Chr10: 73082584 (on Assembly GRCh37)

Preferred name:

NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)

HGVS:

• NC_000010.11:g.71322827C>T
• NG_017066.2:g.8569C>T
• NM_001174098.2:c.73C>T
• NM_001363518.2:c.-162C>T
• NM_018344.6:c.73C>TMANE SELECT
• NP_001167569.1:p.Arg25Ter
• NP_060814.4:p.Arg25Ter
• LRG_1318t1:c.73C>T
• LRG_1318:g.8569C>T
• LRG_1318p1:p.Arg25Ter
• NC_000010.10:g.73082584C>T
• NM_018344.5:c.73C>T
• NR_033413.2:n.124C>T
• NR_033414.2:n.124C>T

This HGVS expression did not pass validation

Protein change:

R25*

Links:

dbSNP: rs746408350

NCBI 1000 Genomes Browser:

rs746408350

Molecular consequence:

• NM_001363518.2:c.-162C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_033413.2:n.124C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033414.2:n.124C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001174098.2:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_018344.6:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1