Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Gln1062Ter (p.Q1062*)
(
ENST00000508376.6,
ENST00000512211.7,
ENST00000507379.6,
ENST00000257430.9,
ENST00000504915.3,
ENST00000509732.6,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Gln1062Ter (p.Q1062*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) AND Carcinoma of colon
- ClinVar Allele ID
- 94472
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.3183_3187del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2805_2809del
- ClinVar RefSeq Alternation Syntax
- NM_001407467.1:c.2796_2800delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407459.1:c.2880_2884delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407471.1:c.2031_2035delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.3006_3010del
- ClinVar RefSeq Alternation Syntax
- NM_001407460.1:c.2880_2884delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407450.1:c.3183_3187delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407458.1:c.2880_2884delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.3129_3133del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.3060_3064del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.3099_3103del
- ClinVar RefSeq Alternation Syntax
- NM_001407447.1:c.3237_3241delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.2334_2338del
- ClinVar RefSeq Alternation Syntax
- NM_001407472.1:c.2031_2035delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407448.1:c.3237_3241delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.3237_3241del
- ClinVar RefSeq Alternation Syntax
- NM_001407454.1:c.2934_2938delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2910_2914del
- ClinVar RefSeq Alternation Syntax
- NM_001407469.1:c.2796_2800delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407457.1:c.2934_2938delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.3108_3112del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2880_2884del
- ClinVar RefSeq Alternation Syntax
- NM_001407451.1:c.3162_3166delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.3183_3187del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2703_2707del
- ClinVar RefSeq Alternation Syntax
- NM_001407470.1:c.2334_2338delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407449.1:c.3237_3241delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407455.1:c.2934_2938delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.3213_3217del
- ClinVar RefSeq Alternation Syntax
- NM_001407456.1:c.2934_2938delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.3183_3187del
- ClinVar RefSeq Alternation Syntax
- NM_001407453.1:c.3006_3010delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407446.1:c.3267_3271delACAAA
- ClinVar RefSeq Alternation Syntax
- NM_001407452.1:c.3153_3157delACAAA
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353466
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- unknown
Drugs