ClinVar

NM_018344.6(SLC29A3):c.981C>T (p.Cys327=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71362161 (on Assembly GRCh38)
• Chr10: 73121918 (on Assembly GRCh37)

Preferred name:

NM_018344.6(SLC29A3):c.981C>T (p.Cys327=)

HGVS:

• NC_000010.11:g.71362161C>T
• NG_017066.2:g.47903C>T
• NM_001174098.2:c.*210C>T
• NM_001363518.2:c.747C>T
• NM_018344.6:c.981C>TMANE SELECT
• NP_001350447.1:p.Cys249=
• NP_060814.4:p.Cys327=
• LRG_1318t1:c.981C>T
• LRG_1318:g.47903C>T
• LRG_1318p1:p.Cys327=
• NC_000010.10:g.73121918C>T
• NR_033413.2:n.949C>T
• NR_033414.2:n.722C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144433073

NCBI 1000 Genomes Browser:

rs144433073

Molecular consequence:

• NM_001174098.2:c.*210C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_033413.2:n.949C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_033414.2:n.722C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001363518.2:c.747C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018344.6:c.981C>T - synonymous variant - [Sequence Ontology: SO:0001819]