Full data view for gene HTT

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

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 42i c.5719-1081A>G C1d - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1g - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G A2bxC1X - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #1 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G C1 - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G A1axC1 AMR-X - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G A5a - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G B2a - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G A1a AMR - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 42i c.5719-1081A>G A5b - r.(?) p.(=) - Parent #2 g.3207142A>G g.3205415A>G - - HTT_000051 - Kay, submitted EJHG - rs7685686 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
Legend