ClinVar

NM_172225.2(DMBX1):c.854G>C (p.Gly285Ala)

Gene:

DMBX1:diencephalon/mesencephalon homeobox 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p33

Genomic location:

• Chr1: 46512214 (on Assembly GRCh38)
• Chr1: 46977886 (on Assembly GRCh37)

Preferred name:

NM_172225.2(DMBX1):c.854G>C (p.Gly285Ala)

HGVS:

• NC_000001.11:g.46512214G>C
• NG_050727.1:g.27378G>C
• NG_090945.1:g.562G>C
• NM_001387775.1:c.854G>C
• NM_001387776.1:c.869G>C
• NM_147192.4:c.869G>C
• NM_172225.2:c.854G>CMANE SELECT
• NP_001374704.1:p.Gly285Ala
• NP_001374705.1:p.Gly290Ala
• NP_671725.1:p.Gly290Ala
• NP_757379.1:p.Gly285Ala
• NC_000001.10:g.46977886G>C
• NM_147192.2:c.869G>C

This HGVS expression did not pass validation

Protein change:

G285A

Molecular consequence:

• NM_001387775.1:c.854G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387776.1:c.869G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_147192.4:c.869G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172225.2:c.854G>C - missense variant - [Sequence Ontology: SO:0001583]