Full data view for gene HTR2C

Information The variants shown are described using the NM_001256760.1 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
?/. _1 c.-850C= HTR2C 2-1-1 r.(?) p.(=) Parent #1 - VUS g.113818520= g.114584047= C-759T (NM_000868.3) - HTR2C_000000 reference haplotype HTR2C 2-1-1 Reference haplotype - rs3813929 SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. _1 c.-850C= HTR2C 2-1-1 r.(=) p.(=) Parent #1 - likely pathogenic g.113818520= g.114584047= - - HTR2C_000000 allele significantly associated with antipsychotic-induced weight gain PubMed: Sicard 2010, Journal: Sicard 2010 - rs3813929 Germline - 51/61 cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
+?/. _1 c.-850C= HTR2C 2-2-2 r.(?) p.(=) Parent #1 - likely pathogenic g.113818520= g.114584047= C-759T (NM_000868.3) - HTR2C_000000 allele not associated with antipsychotic-induced weight gain PubMed: Sicard 2010, Journal: Sicard 2010 - rs3813929 Germline - 8/27cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
?/. 1 c.-850C>T HTR2C 1-1-1 r.(=) p.(=) Parent #1 - VUS g.113818520C>T g.114584047C>T C-759T (NM_000868.3) - HTR2C_000008 reference haplotype HTR2C 1-1-1 Reference haplotype - rs3813929 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-850C>T HTR2C 1-2-1 r.(=) p.(=) Parent #1 - VUS g.113818520C>T g.114584047C>T C-759T (NM_000868.3) - HTR2C_000008 reference haplotype HTR2C 1-2-1 Reference haplotype - rs3813929 Germline - - - 0 - DNA SEQ - - - - reference haplotype - F;M - - - - 0 - - 1 Johan den Dunnen
?/. _1 c.-850C>T HTR2C 1-2-1 r.(=) p.(=) Parent #1 - VUS g.113818520C>T g.114584047C>T - - HTR2C_000008 - PubMed: Sicard 2010, Journal: Sicard 2010 - rs3813929 Germline - 10/19 cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
?/. _1 c.-850C>T HTR2C 1-1-2 r.(?) p.(=) Parent #1 - VUS g.113818520C>T g.114584047C>T - - HTR2C_000008 reference haplotype HTR2C 1-1-2 Reference haplotype - rs3813929 Germline - - - 0 - DNA SEQ - - - - reference haplotype - F;M - - - - 0 - - 1 Johan den Dunnen
-?/. 1 c.-788G>C HTR2C 1-2-1 r.(=) p.(=) Parent #1 - likely benign g.113818582G>C g.114584109= G-697C - HTR2C_000007 allele not associated with antipsychotic-induced weight gain PubMed: Sicard 2010, Journal: Sicard 2010 - rs518147 Germline - 10/19 cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
-?/. 1 c.-788G>C HTR2C 2-2-2 r.(=) p.(=) Parent #1 - likely benign g.113818582G>C g.114584109= G-697C - HTR2C_000007 allele not associated with antipsychotic-induced weight gain PubMed: Sicard 2010, Journal: Sicard 2010 - rs518147 Germline - 8/27cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
./. 1 c.-788G>C HTR2C 1-2-1 r.(?) p.(=) Parent #1 - VUS g.113818582G>C g.114584109= G-697C (NM_000868.3) - HTR2C_000007 reference haplotype HTR2C 1-2-1 Reference haplotype - rs518147 SUMMARY record - - - 0 - DNA SEQ - - - - reference haplotype - F;M - - - - 0 - - 1 Johan den Dunnen
-?/. 4i c.36-13dup - r.(?) p.(=) Unknown - likely benign g.113965690dup g.114731281dup 36-24_36-23insT - HTR2C_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 5 c.68G>C - r.(?) p.(Cys23Ser) Parent #1 - likely benign g.113965735G>C g.114731326= - - HTR2C_000001 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - 0 - DNA SEQ - - MRX;IDX 19377198-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 19 Lucy Raymond
-?/. 5 c.68G>C HTR2C 2-2-2 r.(?) p.(Cys23Ser) Parent #1 - likely benign g.113965735G>C g.114731326= Cys23Ser - HTR2C_000001 allele not associated with antipsychotic-induced weight gain PubMed: Sicard 2010, Journal: Sicard 2010 - rs6318 Germline - 8/27cases - 0 - DNA SEQ - - ? - PubMed: Sicard 2010, Journal: Sicard 2010 study analysing antipsychotic-induced weight gain in 205 schizophrenia or schizoaffective disorder patients F;M - Germany - - 0 - - 205 Johan den Dunnen
?/. 5 c.68G>C HTR2C 1-1-2 r.(?) p.(Cys23Ser) Parent #1 - VUS g.113965735G>C g.114731326= Cys23Ser - HTR2C_000001 reference haplotype HTR2C 1-1-2 Reference haplotype - rs6318 SUMMARY record - - - 0 - DNA SEQ - - - - reference haplotype - F;M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.349+1807_349+1808insA - r.(?) p.(=) Maternal (confirmed) - likely benign g.113967823_113967824insA g.114733414_114733415insA - - HTR2C_000010 - PubMed: Kumar 2016, Journal: Kumar 2016 - rs2428724 Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
-?/. 5i c.350-31G>A - r.(?) p.(=) Maternal (inferred) - likely benign g.114082535G>A g.114847972G>A - - HTR2C_000003 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 5i c.350-31G>A - r.(?) p.(=) Maternal (inferred) - likely benign g.114082535G>A g.114847972G>A - - HTR2C_000003 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.551-3008C>G - r.(=) p.(=) Unknown - likely benign g.114138144C>G g.114903581C>G HTR2C(NM_001256760.2):c.551-3008C>G - HTR2C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6i c.551-243A>G - r.(?) p.(=) Maternal (inferred) - likely benign g.114140909A>G g.114906346A>G - - HTR2C_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 6i c.551-243A>G - r.(?) p.(=) Maternal (inferred) - likely benign g.114140909A>G g.114906346A>G - - HTR2C_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.553G>A - r.(?) p.(Val185Ile) Unknown - likely benign g.114141154G>A - HTR2C(NM_001256760.2):c.553G>A (p.V185I) - HTR2C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.621C>T - r.(?) p.(Cys207=) Unknown - VUS g.114141222C>T - HTR2C(NM_001256761.2):c.526C>T (p.R176C) - HTR2C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.717C>T - r.(?) p.(Tyr239=) Parent #1 - VUS g.114141318C>T g.114906755C>T Y239Y - HTR2C_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377199-Pat? PubMed: Tarpey 2009 208 families with X-linked mental retardation M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.985A>G - r.(?) p.(Ile329Val) Unknown - VUS g.114141586A>G g.114907023A>G HTR2C(NM_001256760.2):c.985A>G (p.I329V) - HTR2C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1219_1222del - r.(?) p.(Ser407Glyfs*16) Maternal (confirmed) ACMG likely pathogenic g.114141820_114141823del g.114907257_114907260del 1219_1222delTCTG - HTR2C_000013 - - - - Germline - - - 0 - DNA SEQ-NG - WES seizures Pat116 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
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