Variant #0000079605 (NC_000004.11:g.71552_3375637del, HTT(NM_002111.6):c.-3005001_*133851del)

Individual ID 00050680
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.71552_3375637del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IDUA_000000
Variant remarks decreased gene dosage
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

DNA/Legacy     
FGFR3 NM_000142.4 ./. - c.-1723743_*1566648del - r.0? p.0? -
IDUA NM_000203.3 ./. _1_14_ c.-909321_*2377456del - r.0 p.0 -
PDE6B NM_000283.3 ./. - c.-547864_*2711741del - r.0? p.0? -
FAM53A NM_001013622.3 ./. - c.-1690117_*1571468del - r.0? p.0? -
ZNF718 NM_001039127.3 ./. - c.-53001_*3219725del - r.0? p.0? -
MSANTD1 NM_001042690.1 ./. - c.-3179398_*117945del - r.0? p.0? -
MFSD10 NM_001120.4 ./. - c.-439987_*2861013del - r.0? p.0? -
PIGG NM_001127178.1 ./. - c.-421573_*2842479del - r.0? p.0? -
SPON2 NM_001128325.2 ./. - c.-2208909_*1089708del - r.0? p.0? -
ZNF732 NM_001137608.1 ./. - c.-3076538_*193336del - r.0? p.0? -
C4orf48 NM_001141936.2 ./. - c.-1972376_*1329984del - r.0? p.0? -
ZFYVE28 NM_001172656.1 ./. - c.-955587_*2200900del - r.0? p.0? -
CTBP1 NM_001328.2 ./. - c.-2132894_*1134476del - r.0? p.0? -
DGKQ NM_001347.3 ./. - c.-2408367_*882856del - r.0? p.0? -
HTT NM_002111.6 ./. - c.-3005001_*133851del - r.0? p.0? -
MYL5 NM_002477.1 ./. - c.-600264_*2699854del - r.0? p.0? -
RNF4 NM_002938.4 ./. - c.-2399591_*860091del - r.0? p.0? -
SH3BP2 NM_003023.4 ./. - c.-2749250_*540076del - r.0? p.0? -
ZNF141 NM_003441.2 ./. - c.-260221_*3007986del - r.0? p.0? -
NOP14 NM_003703.1 ./. - c.-410591_*2868383del - r.0? p.0? -
FAM193A NM_003704.3 ./. - c.-2555958_*642042del - r.0? p.0? -
GAK NM_005255.2 ./. - c.-2449662_*771909del - r.0? p.0? -
NELFA NM_005663.4 ./. - c.-1364918_*1913494del - r.0? p.0? -
MAEA NM_005882.3 ./. - c.-1212150_*2042680del - r.0? p.0? -
PCGF3 NM_006315.4 ./. - c.-628397_*2615770del - r.0? p.0? -
TACC3 NM_006342.2 ./. - c.-1651820_*1628897del - r.0? p.0? -
MXD4 NM_006454.2 ./. - c.-1111930_*2180719del - r.0? p.0? -
SLBP NM_006527.2 ./. - c.-1661722_*1623772del - r.0? p.0? -
CPLX1 NM_006651.3 ./. - c.-2555883_*708737del - r.0? p.0? -
ATP5I NM_007100.3 ./. - c.-2707601_*594737del - r.0? p.0? -
LETM1 NM_012318.2 ./. - c.-1517960_*1744599del - r.0? p.0? -
ADD1 NM_014189.3 ./. - c.-2774220_*445387del - r.0? p.0? -
UVSSA NM_020894.2 ./. - c.-1269999_*1995888del - r.0? p.0? -
FGFRL1 NM_021923.3 ./. - c.-934722_*2356502del - r.0? p.0? -
TNIP2 NM_024309.3 ./. - c.-617621_*2672432del - r.0? p.0? -
HAUS3 NM_024511.5 ./. - c.-1132007_*2162102del - r.0? p.0? -
MFSD7 NM_032219.2 ./. - c.-2692721_*604195del - r.0? p.0? -
TMEM175 NM_032326.2 ./. - c.-854808_*2423353del - r.0? p.0? -
WHSC1 NM_133330.2 ./. - c.-1823451_*1395001del - r.0? p.0? -
ZNF721 NM_133474.2 ./. - c.-2882886_*363932del - r.0? p.0? -
TMEM129 NM_138385.3 ./. - c.-1653073_*1647585del - r.0? p.0? -
CRIPAK NM_175918.3 ./. - c.-1316748_*1985997del - r.0? p.0? -
NAT8L NM_178557.3 ./. - c.-1989687_*1309783del - r.0? p.0? -
POLN NM_181808.2 ./. - c.-1144679_*2002289del - r.0? p.0? -
ZNF595 NM_182524.2 ./. - c.226+11506_*3288297del - r.? p.? -
GRK4 NM_182982.2 ./. - c.-2894246_*333285del - r.0? p.0? -
RNF212 NM_194439.4 ./. - c.-2268385_*995252del - r.0? p.0? -
RGS12 NM_198229.2 ./. - c.-3245226_1999-12506del - r.(=) p.(=) -
SLC26A1 NM_213613.3 ./. - c.-2388791_*911069del - r.0? p.0? -
ABCA11P NR_002451.2 ./. - n.-2907639_*347672del - r.0? p.0? -
SCARNA22 NR_003004.1 ./. - n.-1904811_*1399150del - r.0? p.0? -
NOP14-AS1 NR_015453.1 ./. - n.-2865721_*422843del - r.0? p.0? -
ZNF876P NR_027481.1 ./. - n.-134837_*3125863del - r.0? p.0? -
MIR571 NR_030297.1 ./. - n.-272394_*3031596del - r.0? p.0? -
MIR943 NR_030641.1 ./. - n.-1387433_*1916559del - r.0? p.0? -
CTBP1-AS2 NR_033339.1 ./. - n.-1171676_*2128842del - r.0? p.0? -
TMED11P NR_033768.1 ./. - n.-2258685_*1037433del - r.0? p.0? -
MIR4800 NR_039964.1 ./. - n.-1123754_*2180252del - r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050625 DNA SEQ;SEQ-NG-I - - - 1 Johan den Dunnen