ClinVar

NM_001384.5(DPH2):c.1400C>T (p.Thr467Met)

Genes:

LOC126805726:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 [Gene]
DPH2:diphthamide biosynthesis 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 43972469 (on Assembly GRCh38)
• Chr1: 44438141 (on Assembly GRCh37)

Preferred name:

NM_001384.5(DPH2):c.1400C>T (p.Thr467Met)

HGVS:

• NC_000001.11:g.43972469C>T
• NG_082050.2:g.1217C>T
• NM_001039589.2:c.716C>T
• NM_001319165.2:c.1172C>T
• NM_001319166.2:c.1127C>T
• NM_001319167.2:c.821C>T
• NM_001319168.2:c.1172C>T
• NM_001319169.2:c.995C>T
• NM_001319170.2:c.821C>T
• NM_001319171.2:c.956C>T
• NM_001384.5:c.1400C>TMANE SELECT
• NP_001034678.1:p.Thr239Met
• NP_001306094.1:p.Thr391Met
• NP_001306095.1:p.Thr376Met
• NP_001306096.1:p.Thr274Met
• NP_001306097.1:p.Thr391Met
• NP_001306098.1:p.Thr332Met
• NP_001306099.1:p.Thr274Met
• NP_001306100.1:p.Thr319Met
• NP_001375.2:p.Thr467Met
• NC_000001.10:g.44438141C>T
• NM_001384.4:c.1400C>T

This HGVS expression did not pass validation

Protein change:

T239M

Molecular consequence:

• NM_001039589.2:c.716C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319165.2:c.1172C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319166.2:c.1127C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319167.2:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319168.2:c.1172C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319169.2:c.995C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319170.2:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319171.2:c.956C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384.5:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]