ClinVar

NM_006979.3(SLC39A7):c.53G>A (p.Trp18Ter)

Gene:

SLC39A7:solute carrier family 39 member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33201298 (on Assembly GRCh38)
• Chr6: 33169075 (on Assembly GRCh37)

Preferred name:

NM_006979.3(SLC39A7):c.53G>A (p.Trp18Ter)

HGVS:

• NC_000006.12:g.33201298G>A
• NG_023374.1:g.4358C>T
• NM_001077516.2:c.53G>A
• NM_001288777.2:c.-39G>A
• NM_006979.3:c.53G>AMANE SELECT
• NP_001070984.1:p.Trp18Ter
• NP_008910.2:p.Trp18Ter
• NC_000006.11:g.33169075G>A

This HGVS expression did not pass validation

Protein change:

W18*

Links:

dbSNP: rs956657049

NCBI 1000 Genomes Browser:

rs956657049

Molecular consequence:

• NM_001288777.2:c.-39G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001077516.2:c.53G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_006979.3:c.53G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1