ClinVar

NM_001395167.1(EBF4):c.232C>T (p.Arg78Trp)

Gene:

EBF4:EBF family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 2705671 (on Assembly GRCh38)
• Chr20: 2686317 (on Assembly GRCh37)

Preferred name:

NM_001395167.1(EBF4):c.232C>T (p.Arg78Trp)

HGVS:

• NC_000020.11:g.2705671C>T
• NM_001110514.2:c.532C>T
• NM_001395167.1:c.232C>TMANE SELECT
• NM_001395168.1:c.138-303C>T
• NP_001103984.1:p.Arg74Trp
• NP_001103984.2:p.Arg178Trp
• NP_001382096.1:p.Arg78Trp
• NC_000020.10:g.2686317C>T
• NM_001110514.1:c.220C>T
• NR_138537.2:n.586C>T

This HGVS expression did not pass validation

Protein change:

R178W

Molecular consequence:

• NM_001395168.1:c.138-303C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001110514.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395167.1:c.232C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_138537.2:n.586C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]