ClinVar

NM_001377530.1(DMBT1):c.7025G>A (p.Arg2342His)

Genes:

LOC126861068:BRD4-independent group 4 enhancer GRCh37_chr10:124398858-124400057 [Gene]
DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 122640122 (on Assembly GRCh38)
• Chr10: 124399638 (on Assembly GRCh37)

Preferred name:

NM_001377530.1(DMBT1):c.7025G>A (p.Arg2342His)

HGVS:

• NC_000010.11:g.122640122G>A
• NG_012644.1:g.84458G>A
• NG_085567.1:g.881G>A
• NM_001320644.2:c.6635G>A
• NM_001377530.1:c.7025G>AMANE SELECT
• NM_004406.3:c.4754G>A
• NM_007329.3:c.6638G>A
• NM_017579.3:c.6608G>A
• NP_001307573.1:p.Arg2212His
• NP_001364459.1:p.Arg2342His
• NP_004397.2:p.Arg1585His
• NP_015568.2:p.Arg2213His
• NP_060049.2:p.Arg2203His
• NC_000010.10:g.124399638G>A
• NM_007329.2:c.6638G>A

This HGVS expression did not pass validation

Protein change:

R1585H

Molecular consequence:

• NM_001320644.2:c.6635G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377530.1:c.7025G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004406.3:c.4754G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007329.3:c.6638G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017579.3:c.6608G>A - missense variant - [Sequence Ontology: SO:0001583]