ClinVar

NM_053051.5(CNTROB):c.208G>A (p.Gly70Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7933287 (on Assembly GRCh38)
• Chr17: 7836605 (on Assembly GRCh37)

Preferred name:

NM_053051.5(CNTROB):c.208G>A (p.Gly70Ser)

HGVS:

• NC_000017.11:g.7933287G>A
• NG_029754.1:g.6158G>A
• NG_029754.2:g.6208G>A
• NG_160974.2:g.368G>A
• NM_001037144.7:c.208G>A
• NM_001330124.3:c.208G>A
• NM_001353202.2:c.208G>A
• NM_001353203.2:c.208G>A
• NM_001353204.2:c.-483G>A
• NM_001353205.2:c.-64G>A
• NM_001353206.2:c.208G>A
• NM_001353207.1:c.208G>A
• NM_001353208.2:c.208G>A
• NM_001353209.1:c.208G>A
• NM_053051.5:c.208G>AMANE SELECT
• NP_001032221.1:p.Gly70Ser
• NP_001317053.1:p.Gly70Ser
• NP_001340131.1:p.Gly70Ser
• NP_001340132.1:p.Gly70Ser
• NP_001340135.1:p.Gly70Ser
• NP_001340136.1:p.Gly70Ser
• NP_001340137.1:p.Gly70Ser
• NP_001340138.1:p.Gly70Ser
• NP_444279.2:p.Gly70Ser
• NC_000017.10:g.7836605G>A
• NM_001037144.5:c.208G>A

This HGVS expression did not pass validation

Protein change:

G70S

Molecular consequence:

• NM_001353204.2:c.-483G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353205.2:c.-64G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001037144.7:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330124.3:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353202.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353203.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353206.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353207.1:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353208.2:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353209.1:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_053051.5:c.208G>A - missense variant - [Sequence Ontology: SO:0001583]