Full data view for gene TTC19

Information The variants shown are described using the NM_017775.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-24677C>T r.(?) p.(=) Unknown - VUS g.15878486C>T g.15975172C>T ADORA2B(NM_000676.2):c.829C>T (p.(Leu277Phe)) - ADORA2B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.-42G>T r.(=) p.(=) Parent #1 - pathogenic g.15903121G>T g.15999807G>T - - TTC19_000018 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs769078093 Germline - 1/2785 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.7C>T r.(?) p.(Arg3Trp) Parent #1 - likely pathogenic g.15903169C>T g.15999855C>T - - TTC19_000019 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs756830714 Germline - 4/2772 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.87C>T r.(?) p.(Leu29=) Unknown - likely benign g.15903249C>T g.15999935C>T TTC19(NM_017775.3):c.87C>T (p.L29=) - TTC19_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112C>A r.(?) p.(Pro38Thr) Unknown - likely benign g.15903274C>A g.15999960C>A TTC19(NM_017775.3):c.112C>A (p.P38T) - TTC19_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.283G>C r.(?) p.(Glu95Gln) Unknown - likely benign g.15903530G>C g.16000216G>C TTC19(NM_017775.3):c.283G>C (p.E95Q) - TTC19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313-4T>C r.spl? p.? Unknown - likely benign g.15905225T>C g.16001911T>C TTC19(NM_001271420.1):c.-9-4T>C - TTC19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.313-4T>C r.spl? p.? Unknown - likely benign g.15905225T>C g.16001911T>C TTC19(NM_001271420.1):c.-9-4T>C - TTC19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.369T>A r.(?) p.(Leu123=) Unknown - likely benign g.15905285T>A - TTC19(NM_001271420.1):c.48T>A (p.L16=) - TTC19_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.465del r.(?) p.(Glu156AsnfsTer8) Unknown - pathogenic g.15907147del g.16003833del - - TTC19_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.656T>G r.(?) p.(Leu219Ter) Unknown - pathogenic g.15909862T>G g.16006548T>G - - TTC19_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.675+43C>A r.(=) p.(=) Parent #1 - benign g.15909924C>A g.16006610C>A - - TTC19_000006 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs758853 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.676-39A>G r.(=) p.(=) Parent #1 - benign g.15909843A>G g.16006529A>G - - TTC19_000005 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - rs3760298 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.692A>G r.(?) p.(Asn231Ser) Unknown - likely benign g.15928346A>G g.16025032A>G TTC19(NM_001271420.1):c.371A>G (p.N124S) - TTC19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.787-5T>G r.spl? p.? Parent #1 - VUS g.15928436T>G g.16025122T>G - - TTC19_000003 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 5 c.880C>T r.(?) p.(Gln294*) Both (homozygous) - likely pathogenic g.15929902C>T g.16026588C>T 517C>T;Q173X - TTC19_000001 - PubMed: Ghezzi 2011 - - Germline - - - 0 - DNA SEQ, PCR - - MC3DN-2 21278747-Fam1Pat4 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - 0 - - 1 Johan den Dunnen
-?/. - c.898A>C r.(?) p.(Ile300Leu) Unknown - likely benign g.15929920A>C g.16026606A>C TTC19(NM_001271420.1):c.577A>C (p.I193L) - NCOR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906G>A r.(?) p.(Met302Ile) Unknown - likely benign g.15929928G>A g.16026614G>A TTC19(NM_001271420.1):c.585G>A (p.(Met195Ile)) - NCOR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.977C>T r.(?) p.(Ala326Val) Unknown - likely benign g.15929999C>T g.16026685C>T TTC19(NM_001271420.1):c.656C>T (p.(Ala219Val)) - NCOR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997C>T r.(?) p.(Arg333*) Unknown - VUS g.15930690C>T - TTC19(NM_001271420.1):c.676C>T (p.R226*) - NCOR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1006C>T r.(?) p.(Gln336Ter) Unknown - pathogenic g.15930699C>T g.16027385C>T TTC19(NM_001271420.1):c.685C>T (p.Q229*) - NCOR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1019T>G r.(?) p.(Leu340*) Both (homozygous) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - DNA SEQ, PCR - - MC3DN-2 21278747-Fam1Pat1 PubMed: Ghezzi 2011 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F no Italy - - 0 - - 2 Johan den Dunnen
+/. 7 c.1019T>G r.(?) p.(Leu340*) Both (homozygous) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - DNA SEQ, PCR - - MC3DN-2 21278747-Fam1Pat2 PubMed: Ghezzi 2011 brother Pat1 M no Italy - - 0 - - 1 Johan den Dunnen
+/. 7 c.1019T>G r.(?) p.(Leu340*) Both (homozygous) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - DNA SEQ, PCR - - MC3DN-2 21278747-Fam1Pat3 PubMed: Ghezzi 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Italy - - 0 - - 1 Johan den Dunnen
-?/. - c.1041A>G r.(?) p.(Gln347=) Unknown - likely benign g.15930734A>G g.16027420A>G TTC19(NM_001271420.1):c.720A>G (p.Q240=) - TTC19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1072C>T r.(?) p.(Gln358Ter) Unknown - VUS g.15930765C>T g.16027451C>T TTC19(NM_001271420.1):c.751C>T (p.Q251*) - TTC19_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1108_1112del r.(?) p.(Lys370Ter) Unknown - pathogenic g.15930801_15930805del - TTC19(NM_001271420.1):c.787_791delAAAAG (p.K263*) - NCOR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1357+71G>A r.(=) p.(=) Parent #1 - VUS g.15931121G>A g.16027807G>A - - TTC19_000004 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs35168566 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.*335C>T r.(=) p.(=) Parent #1 - VUS g.15931171C>T g.16027857C>T - - TTC19_000020 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117087989 Germline - 6/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
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