ClinVar

NM_024800.5(NEK11):c.96A>G (p.Gln32=)

Gene:

NEK11:NIMA related kinase 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

• Chr3: 131029804 (on Assembly GRCh38)
• Chr3: 130748648 (on Assembly GRCh37)

Preferred name:

NM_024800.5(NEK11):c.96A>G (p.Gln32=)

HGVS:

• NC_000003.12:g.131029804A>G
• NG_029225.1:g.7955A>G
• NM_001146003.2:c.96A>G
• NM_001321220.2:c.96A>G
• NM_001321221.2:c.96A>G
• NM_001321222.2:c.96A>G
• NM_001321223.1:c.96A>G
• NM_001321224.2:c.-183A>G
• NM_001353022.2:c.96A>G
• NM_001353023.2:c.96A>G
• NM_001353024.2:c.96A>G
• NM_001353025.2:c.96A>G
• NM_001353026.2:c.96A>G
• NM_001353027.2:c.96A>G
• NM_001353028.2:c.96A>G
• NM_001353029.2:c.96A>G
• NM_001353030.2:c.96A>G
• NM_001353031.2:c.96A>G
• NM_001353032.2:c.96A>G
• NM_001353033.2:c.-456A>G
• NM_001353034.2:c.-345A>G
• NM_001353036.2:c.96A>G
• NM_001353037.2:c.96A>G
• NM_001353038.2:c.-489A>G
• NM_001353039.2:c.-183A>G
• NM_001353040.2:c.-456A>G
• NM_001353041.2:c.-497A>G
• NM_001353042.2:c.-493A>G
• NM_001353043.2:c.-345A>G
• NM_001353044.2:c.96A>G
• NM_001353045.2:c.96A>G
• NM_001353046.2:c.-183A>G
• NM_001353048.2:c.-456A>G
• NM_024800.5:c.96A>GMANE SELECT
• NM_145910.4:c.96A>G
• NP_001139475.1:p.Gln32=
• NP_001308149.1:p.Gln32=
• NP_001308150.1:p.Gln32=
• NP_001308151.1:p.Gln32=
• NP_001308152.1:p.Gln32=
• NP_001339951.1:p.Gln32=
• NP_001339952.1:p.Gln32=
• NP_001339953.1:p.Gln32=
• NP_001339954.1:p.Gln32=
• NP_001339955.1:p.Gln32=
• NP_001339956.1:p.Gln32=
• NP_001339957.1:p.Gln32=
• NP_001339958.1:p.Gln32=
• NP_001339959.1:p.Gln32=
• NP_001339960.1:p.Gln32=
• NP_001339961.1:p.Gln32=
• NP_001339965.1:p.Gln32=
• NP_001339966.1:p.Gln32=
• NP_001339973.1:p.Gln32=
• NP_001339974.1:p.Gln32=
• NP_079076.3:p.Gln32=
• NP_665917.1:p.Gln32=
• NC_000003.11:g.130748648A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001321224.2:c.-183A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353033.2:c.-456A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353034.2:c.-345A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353038.2:c.-489A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353039.2:c.-183A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353040.2:c.-456A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353041.2:c.-497A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353042.2:c.-493A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353043.2:c.-345A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353046.2:c.-183A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353048.2:c.-456A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001146003.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321220.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321221.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321222.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321223.1:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353022.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353023.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353024.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353025.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353026.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353027.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353028.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353029.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353030.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353031.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353032.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353036.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353037.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353044.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353045.2:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_024800.5:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_145910.4:c.96A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1