ClinVar

NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12])

Gene:

CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2884848 - 2884849 (on Assembly GRCh38)
• Chr11: 2906078 - 2906079 (on Assembly GRCh37)

Preferred name:

NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12])

HGVS:

• NC_000011.10:g.2884860_2884871dup
• NG_008022.1:g.5906_5917dup
• NM_000076.2:c.630_641dup
• NM_001122630.2:c.597_608dupMANE SELECT
• NM_001122631.2:c.597_608dup
• NM_001362474.2:c.630_641dup
• NM_001362475.2:c.255+342_255+353dup
• NP_000067.1:p.197_198AP[12]
• NP_001116102.1:p.186_187AP[12]
• NP_001116103.1:p.186_187AP[12]
• NP_001349403.1:p.197_198AP[12]
• LRG_533t1:c.630_641dup
• LRG_533:g.5906_5917dup
• LRG_533p1:p.197_198AP[12]
• NC_000011.9:g.2906078_2906079insGGGGCCGGGGCG
• NC_000011.9:g.2906090_2906101dup
• NM_000076.2:c.630_641dup12

This HGVS expression did not pass validation

Links:

dbSNP: rs1380480846

NCBI 1000 Genomes Browser:

rs1380480846

Molecular consequence:

• NM_000076.2:c.630_641dup - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001122630.2:c.597_608dup - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001122631.2:c.597_608dup - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001362474.2:c.630_641dup - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001362475.2:c.255+342_255+353dup - intron variant - [Sequence Ontology: SO:0001627]