Full data view for gene CPT1C

Information The variants shown are described using the NM_152359.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-5170G>C r.(?) p.(=) Unknown - likely benign g.50189442G>C g.49686185G>C PRMT1(NM_001536.5):c.852G>C (p.L284=) - CPT1C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5151G>A r.(?) p.(=) Unknown - VUS g.50189461G>A g.49686204G>A PRMT1(NM_001536.5):c.871G>A (p.E291K) - PRMT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-5125C>T r.(?) p.(=) Unknown - likely benign g.50189487C>T - PRMT1(NM_001536.5):c.897C>T (p.T299=) - CPT1C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4664G>A r.(?) p.(=) Unknown - VUS g.50189948G>A g.49686691G>A - - PRMT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.291A>C r.(?) p.(Gln97His) Unknown - likely benign g.50203950A>C - CPT1C(NM_001199752.2):c.291A>C (p.Q97H) - CPT1C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.645G>A r.(?) p.(Ser215=) Unknown - benign g.50204843G>A - - - CPT1C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074G>A r.(?) p.(Leu358=) Unknown - likely benign g.50209275G>A - CPT1C(NM_001199752.2):c.1074G>A (p.L358=) - CPT1C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1308C>T r.(?) p.(Tyr436=) Unknown - VUS g.50209635C>T g.49706378C>T - - CPT1C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1326C>T r.(?) p.(Ala442=) Unknown - benign g.50209653C>T - - - CPT1C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1494C>T r.(=) p.(=) Parent #1 - benign g.50212024C>T g.49708767C>T - - CPT1C_000004 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61747405 Germline - 24/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 24 Mohammed Faruq
?/. - c.2059C>G r.(?) p.(Pro687Ala) Unknown - VUS g.50216032C>G - CPT1C(NM_001199752.2):c.2059C>G (p.P687A) - CPT1C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2178T>A r.(?) p.(Asp726Glu) Unknown - likely benign g.50216273T>A g.49713016T>A CPT1C(NM_001199752.2):c.2178T>A (p.D726E) - CPT1C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2392A>G r.(?) p.(Met798Val) Unknown - likely benign g.50216842A>G g.49713585A>G CPT1C(NM_001199752.2):c.2392A>G (p.M798V) - CPT1C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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