ClinVar

NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71362167 (on Assembly GRCh38)
• Chr10: 73121924 (on Assembly GRCh37)

Preferred name:

NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)

HGVS:

• NC_000010.11:g.71362167C>T
• NG_017066.2:g.47909C>T
• NM_001174098.2:c.*216C>T
• NM_001363518.2:c.753C>T
• NM_018344.6:c.987C>TMANE SELECT
• NP_001350447.1:p.Asn251=
• NP_060814.4:p.Asn329=
• LRG_1318t1:c.987C>T
• LRG_1318:g.47909C>T
• LRG_1318p1:p.Asn329=
• NC_000010.10:g.73121924C>T
• NM_018344.5:c.987C>T
• NR_033413.2:n.955C>T
• NR_033414.2:n.728C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147814367

NCBI 1000 Genomes Browser:

rs147814367

Molecular consequence:

• NM_001174098.2:c.*216C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_033413.2:n.955C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033414.2:n.728C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001363518.2:c.753C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018344.6:c.987C>T - synonymous variant - [Sequence Ontology: SO:0001819]