ClinVar

NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71362075 (on Assembly GRCh38)
• Chr10: 73121832 (on Assembly GRCh37)

Preferred name:

NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys)

HGVS:

• NC_000010.11:g.71362075C>T
• NG_017066.2:g.47817C>T
• NM_001174098.2:c.*124C>T
• NM_001363518.2:c.661C>T
• NM_018344.6:c.895C>TMANE SELECT
• NP_001350447.1:p.Arg221Cys
• NP_060814.4:p.Arg299Cys
• LRG_1318t1:c.895C>T
• LRG_1318:g.47817C>T
• LRG_1318p1:p.Arg299Cys
• NC_000010.10:g.73121832C>T
• NM_018344.5:c.895C>T
• NR_033413.2:n.863C>T
• NR_033414.2:n.636C>T

This HGVS expression did not pass validation

Protein change:

R221C

Links:

dbSNP: rs190003480

NCBI 1000 Genomes Browser:

rs190003480

Molecular consequence:

• NM_001174098.2:c.*124C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001363518.2:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018344.6:c.895C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033413.2:n.863C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033414.2:n.636C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]