ClinVar

NM_053051.5(CNTROB):c.2190C>T (p.Asp730=)

Gene:

CNTROB:centrobin, centriole duplication and spindle assembly protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7947960 (on Assembly GRCh38)
• Chr17: 7851278 (on Assembly GRCh37)

Preferred name:

NM_053051.5(CNTROB):c.2190C>T (p.Asp730=)

HGVS:

• NC_000017.11:g.7947960C>T
• NG_029754.1:g.20831C>T
• NG_029754.2:g.20881C>T
• NM_001037144.7:c.2190C>T
• NM_001330124.3:c.2190C>T
• NM_001353202.2:c.2190C>T
• NM_001353203.2:c.2190C>T
• NM_001353204.2:c.1632C>T
• NM_001353205.2:c.1923C>T
• NM_001353206.2:c.2190C>T
• NM_001353207.1:c.2190C>T
• NM_001353208.2:c.2190C>T
• NM_001353209.1:c.2190C>T
• NM_053051.5:c.2190C>TMANE SELECT
• NP_001032221.1:p.Asp730=
• NP_001317053.1:p.Asp730=
• NP_001340131.1:p.Asp730=
• NP_001340132.1:p.Asp730=
• NP_001340133.1:p.Asp544=
• NP_001340134.1:p.Asp641=
• NP_001340135.1:p.Asp730=
• NP_001340136.1:p.Asp730=
• NP_001340137.1:p.Asp730=
• NP_001340138.1:p.Asp730=
• NP_444279.2:p.Asp730=
• NC_000017.10:g.7851278C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001037144.7:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330124.3:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353202.2:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353203.2:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353204.2:c.1632C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353205.2:c.1923C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353206.2:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353207.1:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353208.2:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353209.1:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_053051.5:c.2190C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1