ClinVar

NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter)

Gene:

TDRKH:tudor and KH domain containing [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 151776480 (on Assembly GRCh38)
• Chr1: 151748956 (on Assembly GRCh37)

Preferred name:

NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter)

HGVS:

• NC_000001.11:g.151776480T>A
• NM_001083963.1:c.1003A>T
• NM_001083964.1:c.868A>T
• NM_001083965.2:c.1003A>TMANE SELECT
• NM_006862.4:c.1003A>T
• NP_001077432.1:p.Lys335Ter
• NP_001077433.1:p.Lys290Ter
• NP_001077434.1:p.Lys335Ter
• NP_006853.2:p.Lys335Ter
• NC_000001.10:g.151748956T>A

This HGVS expression did not pass validation

Protein change:

K290*

Links:

dbSNP: rs2101585615

NCBI 1000 Genomes Browser:

rs2101585615

Molecular consequence:

• NM_001083963.1:c.1003A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001083964.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001083965.2:c.1003A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_006862.4:c.1003A>T - nonsense - [Sequence Ontology: SO:0001587]