ClinVar

NM_001142327.2(DMTF1):c.941G>T (p.Gly314Val)

Gene:

DMTF1:cyclin D binding myb like transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87184517 (on Assembly GRCh38)
• Chr7: 86813833 (on Assembly GRCh37)

Preferred name:

NM_001142327.2(DMTF1):c.941G>T (p.Gly314Val)

HGVS:

• NC_000007.14:g.87184517G>T
• NG_029536.1:g.37157G>T
• NM_001142326.2:c.677G>T
• NM_001142327.2:c.941G>TMANE SELECT
• NM_021145.4:c.941G>T
• NP_001135798.1:p.Gly226Val
• NP_001135799.1:p.Gly314Val
• NP_066968.3:p.Gly314Val
• NC_000007.13:g.86813833G>T
• NM_021145.3:c.941G>T
• NR_024549.2:n.1386G>T
• NR_024550.2:n.1347G>T

This HGVS expression did not pass validation

Protein change:

G226V

Molecular consequence:

• NM_001142326.2:c.677G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142327.2:c.941G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021145.4:c.941G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024549.2:n.1386G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_024550.2:n.1347G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]