Full data view for gene HTT

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

34 entries on 1 page. Showing entries 1 - 34.
Legend   How to query  

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.123_143GCC[10] P14 r.(?) p.(Pro39[14]) Unknown - benign g.3076675_3076695GCC[10] - PCR CCG[10] - HTT_000008 - PubMed: Squitier 1994 - - Germline - 64/191 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Squitier 1994 - F;M - - - - - - - 1 Johan den Dunnen
-/- 1 c.123_143GCC[10] Q[40]P[14], C1d r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[46]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[57]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[48]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[48]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[43]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[51]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[42]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[45]P[14], C1 r.(?) p.(Pro39[14]) Parent #1 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[17]P[14], C7b r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[20]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[20]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C5a r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1g r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[20]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[17]P[14], C7a r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[21]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[21]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[21]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[20]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
-/- 1 c.123_143GCC[10] Q[19]P[14], C1 r.(?) p.(Pro39[14]) Parent #2 - benign g.3076675_3076695GCC[10] - PCR CCG10 - HTT_000008 - Kay, submitted EJHG - - Germline - - - - - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - - - - 1 Chris Kay
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.