ClinVar

NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71362095 (on Assembly GRCh38)
• Chr10: 73121852 (on Assembly GRCh37)

Preferred name:

NM_018344.6(SLC29A3):c.915G>A (p.Thr305=)

HGVS:

• NC_000010.11:g.71362095G>A
• NG_017066.2:g.47837G>A
• NM_001174098.2:c.*144G>A
• NM_001363518.2:c.681G>A
• NM_018344.6:c.915G>AMANE SELECT
• NP_001350447.1:p.Thr227=
• NP_060814.4:p.Thr305=
• LRG_1318t1:c.915G>A
• LRG_1318:g.47837G>A
• LRG_1318p1:p.Thr305=
• NC_000010.10:g.73121852G>A
• NR_033413.2:n.883G>A
• NR_033414.2:n.656G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001174098.2:c.*144G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_033413.2:n.883G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033414.2:n.656G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001363518.2:c.681G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018344.6:c.915G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1