Full data view for gene HTT

Information The variants shown are described using the NM_002111.6 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-1758A>G C7b r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C7a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B2a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B1a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B1a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B1a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C5a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1d r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1g r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #1 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G C1 r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B1a r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- _1 c.-1758A>G B2b r.(?) p.(=) Parent #2 - benign g.3074795A>G g.3073068A>G - - HTT_000129 - Kay, submitted EJHG - rs762855 Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
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