ClinVar

NM_003418.5(CNBP):c.156C>T (p.Asp52=)

Gene:

CNBP:CCHC-type zinc finger nucleic acid binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

• Chr3: 129171507 (on Assembly GRCh38)
• Chr3: 128890350 (on Assembly GRCh37)

Preferred name:

NM_003418.5(CNBP):c.156C>T (p.Asp52=)

HGVS:

• NC_000003.12:g.129171507G>A
• NG_011902.1:g.17461C>T
• NM_001127192.2:c.156C>T
• NM_001127193.2:c.156C>T
• NM_001127194.2:c.135C>T
• NM_001127195.2:c.135C>T
• NM_001127196.2:c.135C>T
• NM_003418.5:c.156C>TMANE SELECT
• NP_001120664.1:p.Asp52=
• NP_001120665.1:p.Asp52=
• NP_001120666.1:p.Asp45=
• NP_001120667.1:p.Asp45=
• NP_001120668.1:p.Asp45=
• NP_003409.1:p.Asp52=
• NC_000003.11:g.128890350G>A
• NM_001127192.1:c.156C>T
• NM_003418.4:c.156C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs4303883

NCBI 1000 Genomes Browser:

rs4303883

Molecular consequence:

• NM_001127192.2:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127193.2:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127194.2:c.135C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127195.2:c.135C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127196.2:c.135C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003418.5:c.156C>T - synonymous variant - [Sequence Ontology: SO:0001819]