ClinVar

NM_006197.4(PCM1):c.3741C>T (p.Asn1247=)

Gene:

PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

• Chr8: 17972485 (on Assembly GRCh38)
• Chr8: 17829994 (on Assembly GRCh37)

Preferred name:

NM_006197.4(PCM1):c.3741C>T (p.Asn1247=)

HGVS:

• NC_000008.11:g.17972485C>T
• NG_027690.1:g.54629C>T
• NG_027690.2:g.54499C>T
• NM_001315507.2:c.3741C>T
• NM_001315508.2:c.3744C>T
• NM_001352632.2:c.3858C>T
• NM_001352633.2:c.3858C>T
• NM_001352634.2:c.3741C>T
• NM_001352635.2:c.3744C>T
• NM_001352636.2:c.3861C>T
• NM_001352637.2:c.3858C>T
• NM_001352638.2:c.3858C>T
• NM_001352639.2:c.3741C>T
• NM_001352640.2:c.3744C>T
• NM_001352641.2:c.3741C>T
• NM_001352642.2:c.3741C>T
• NM_001352643.2:c.3858C>T
• NM_001352644.2:c.3741C>T
• NM_001352645.2:c.3741C>T
• NM_001352646.2:c.3741C>T
• NM_001352647.2:c.3741C>T
• NM_001352648.2:c.3744C>T
• NM_001352649.2:c.3744C>T
• NM_001352650.2:c.3858C>T
• NM_001352651.2:c.3858C>T
• NM_001352652.2:c.3741C>T
• NM_001352653.2:c.3741C>T
• NM_001352654.2:c.3741C>T
• NM_001352655.2:c.3741C>T
• NM_001352656.2:c.3741C>T
• NM_001352657.2:c.3741C>T
• NM_001352658.2:c.3741C>T
• NM_006197.4:c.3741C>TMANE SELECT
• NP_001302436.2:p.Asn1247=
• NP_001302437.2:p.Asn1248=
• NP_001339561.2:p.Asn1286=
• NP_001339562.2:p.Asn1286=
• NP_001339563.2:p.Asn1247=
• NP_001339564.2:p.Asn1248=
• NP_001339565.2:p.Asn1287=
• NP_001339566.2:p.Asn1286=
• NP_001339567.2:p.Asn1286=
• NP_001339568.2:p.Asn1247=
• NP_001339569.2:p.Asn1248=
• NP_001339570.2:p.Asn1247=
• NP_001339571.2:p.Asn1247=
• NP_001339572.2:p.Asn1286=
• NP_001339573.2:p.Asn1247=
• NP_001339574.2:p.Asn1247=
• NP_001339575.2:p.Asn1247=
• NP_001339576.2:p.Asn1247=
• NP_001339577.2:p.Asn1248=
• NP_001339578.2:p.Asn1248=
• NP_001339579.2:p.Asn1286=
• NP_001339580.2:p.Asn1286=
• NP_001339581.2:p.Asn1247=
• NP_001339582.2:p.Asn1247=
• NP_001339583.2:p.Asn1247=
• NP_001339584.2:p.Asn1247=
• NP_001339585.2:p.Asn1247=
• NP_001339586.2:p.Asn1247=
• NP_001339587.2:p.Asn1247=
• NP_006188.4:p.Asn1247=
• NC_000008.10:g.17829994C>T
• NR_148032.2:n.4032C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_148032.2:n.4032C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001315507.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001315508.2:c.3744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352632.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352633.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352634.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352635.2:c.3744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352636.2:c.3861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352637.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352638.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352639.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352640.2:c.3744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352641.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352642.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352643.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352644.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352645.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352646.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352647.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352648.2:c.3744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352649.2:c.3744C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352650.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352651.2:c.3858C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352652.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352653.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352654.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352655.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352656.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352657.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352658.2:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006197.4:c.3741C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1