ClinVar

NM_001083965.2(TDRKH):c.674T>A (p.Met225Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 151778894 (on Assembly GRCh38)
• Chr1: 151751370 (on Assembly GRCh37)

Preferred name:

NM_001083965.2(TDRKH):c.674T>A (p.Met225Lys)

HGVS:

• NC_000001.11:g.151778894A>T
• NM_001083963.1:c.674T>A
• NM_001083964.1:c.539T>A
• NM_001083965.2:c.674T>AMANE SELECT
• NM_006862.4:c.674T>A
• NP_001077432.1:p.Met225Lys
• NP_001077433.1:p.Met180Lys
• NP_001077434.1:p.Met225Lys
• NP_006853.2:p.Met225Lys
• NC_000001.10:g.151751370A>T
• NM_001083965.1:c.674T>A

This HGVS expression did not pass validation

Protein change:

M180K

Molecular consequence:

• NM_001083963.1:c.674T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083964.1:c.539T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083965.2:c.674T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006862.4:c.674T>A - missense variant - [Sequence Ontology: SO:0001583]