ClinVar

NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)

Gene:

EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.3

Genomic location:

• Chr10: 129958938 (on Assembly GRCh38)
• Chr10: 131757202 (on Assembly GRCh37)

Preferred name:

NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)

HGVS:

• NC_000010.11:g.129958938A>T
• NG_030038.1:g.9890T>A
• NM_001005463.3:c.481T>A
• NM_001375379.1:c.481T>A
• NM_001375380.1:c.481T>AMANE SELECT
• NM_001375389.1:c.481T>A
• NM_001375390.1:c.481T>A
• NM_001375391.1:c.481T>A
• NM_001375392.1:c.481T>A
• NP_001005463.1:p.Cys161Ser
• NP_001362308.1:p.Cys161Ser
• NP_001362309.1:p.Cys161Ser
• NP_001362318.1:p.Cys161Ser
• NP_001362319.1:p.Cys161Ser
• NP_001362320.1:p.Cys161Ser
• NP_001362321.1:p.Cys161Ser
• NC_000010.10:g.131757202A>T
• NM_001005463.2:c.481T>A

This HGVS expression did not pass validation

Protein change:

C161S

Links:

dbSNP: rs1859258788

NCBI 1000 Genomes Browser:

rs1859258788

Molecular consequence:

• NM_001005463.3:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375379.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375380.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375389.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375390.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375391.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375392.1:c.481T>A - missense variant - [Sequence Ontology: SO:0001583]