LOC109461479 (huntingtin repeat instability region) - Rat Genome Database

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Gene: LOC109461479 (huntingtin repeat instability region) Homo sapiens
Analyze
Symbol: LOC109461479
Name: huntingtin repeat instability region
RGD ID: 38655589
Description: This biological region is found within the 5' coding region of the huntingtin gene on the p arm of chromosome 4, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein, and are known to be a cause of Huntington disease, an autosomal dominant disease. This is a highly polymorphic region, with 15-20 CAG repeats being most prevalent. Alleles with 27-35 repeats are more prone to expansion, while those with greater than 36 alleles can be pathogenic, with higher penetrance correlating to repeat size. There is a bias for expansions of the repeat from paternal transmissions. [provided by RefSeq, Dec 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3843,074,877 - 3,074,940 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3743,076,604 - 3,076,667 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map4p16.3NCBI
T2T-CHM13v2.043,073,631 - 3,073,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:7668287   PMID:7944295   PMID:8064815   PMID:8133509   PMID:8197474   PMID:8252043   PMID:8401575   PMID:8401587   PMID:8401588   PMID:8401589   PMID:8458085   PMID:8659522  
PMID:9150168   PMID:9246488   PMID:9535906   PMID:11149616   PMID:11449389   PMID:12204002   PMID:12548366   PMID:12615650   PMID:12784292   PMID:14993615   PMID:15025718   PMID:15225551  
PMID:15273431   PMID:15654337   PMID:15832309   PMID:15843398   PMID:16096998   PMID:16115812   PMID:16205715   PMID:16606912   PMID:16713248   PMID:16914060   PMID:17610899   PMID:17660463  
PMID:17687393   PMID:17902043   PMID:17952586   PMID:18649400   PMID:18724054   PMID:18981372   PMID:18986984   PMID:19059613   PMID:19249009   PMID:19455596   PMID:19548255   PMID:19566678  
PMID:19674974   PMID:19725930   PMID:19776381   PMID:20301482   PMID:21322024   PMID:21519949   PMID:21540131   PMID:22266885   PMID:22409360   PMID:22580459   PMID:22927682   PMID:22938864  
PMID:23315009   PMID:23443539   PMID:23624566   PMID:23946314   PMID:24038799   PMID:24199621   PMID:24471773   PMID:25580529   PMID:26002199   PMID:26849111   PMID:27000233   PMID:27141411  
PMID:27182645   PMID:27207688  


Genomics

Variants

.
Variants in LOC109461479
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 copy number loss See cases [RCV000142330] Chr4:2007739..3078685 [GRCh38]
Chr4:2009466..3080412 [GRCh37]
Chr4:1979264..3050210 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_001388492.1(HTT):c.54GCA[18] (p.Gln38del) deletion not specified [RCV000454624] Chr4:3074927..3074930 [GRCh38]
Chr4:3076654..3076657 [GRCh37]
Chr4:4p16.3		 benign
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
NM_001388492.1(HTT):c.105_106del (p.Gln36fs) deletion not specified [RCV000455745] Chr4:3074924..3074925 [GRCh38]
Chr4:3076651..3076652 [GRCh37]
Chr4:4p16.3		 benign
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_002111.8(HTT):c.52CAG[?_25] microsatellite Huntington disease [RCV000020466] Chr4:3074877..3074879 [GRCh38]
Chr4:3076604..3076606 [GRCh37]
Chr4:4p16.3		 benign
NC_000004.11:g.3076606GCA[40_?] microsatellite Huntington disease [RCV000030659] Chr4:3074935..3074936 [GRCh38]
Chr4:3076604..3076660 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) microsatellite Huntington disease [RCV000032098] Chr4:3074877 [GRCh38]
Chr4:3076604 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
NM_001388492.1(HTT):c.110A>C (p.Gln37Pro) single nucleotide variant not provided [RCV000190286] Chr4:3074929 [GRCh38]
Chr4:3076656 [GRCh37]
Chr4:4p16.3		 not provided
NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del) deletion Huntington disease [RCV001262217] Chr4:3074912..3074933 [GRCh38]
Chr4:3076639..3076660 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup) microsatellite not provided [RCV001703116]|not specified [RCV001529382] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
NM_002111.8(HTT):c.52CAG[36_39] microsatellite Huntington disease [RCV000032099] Chr4:3074877 [GRCh38]
Chr4:3076604 [GRCh37]
Chr4:4p16.3		 pathogenic|not provided
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_001388492.1(HTT):c.102_103del (p.Gln35fs) deletion Huntington disease [RCV001335904] Chr4:3074921..3074922 [GRCh38]
Chr4:3076648..3076649 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001388492.1(HTT):c.95_96del (p.Gln32fs) deletion Huntington disease [RCV001335909] Chr4:3074914..3074915 [GRCh38]
Chr4:3076641..3076642 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001388492.1(HTT):c.54GCA[27] (p.Gln31_Gln38dup) microsatellite not provided [RCV001356156] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001388492.1(HTT):c.105_108del (p.Gln35fs) deletion Huntington disease [RCV001335905] Chr4:3074924..3074927 [GRCh38]
Chr4:3076651..3076654 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup) microsatellite Huntington disease [RCV001733586] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=) microsatellite not provided [RCV001794972]|not specified [RCV001794973] Chr4:3074877..3074882 [GRCh38]
Chr4:3076604..3076609 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup) microsatellite Huntington disease [RCV002251189] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_001388492.1(HTT):c.54GCA[25] (p.Gln33_Gln38dup) microsatellite See cases [RCV002252400] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 benign
NM_001388492.1(HTT):c.99_100del (p.Gln34fs) deletion Huntington disease [RCV002502086] Chr4:3074918..3074919 [GRCh38]
Chr4:3076645..3076646 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001388492.1(HTT):c.92A>C (p.Gln31Pro) single nucleotide variant Inborn genetic diseases [RCV002951378] Chr4:3074911 [GRCh38]
Chr4:3076638 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001388492.1(HTT):c.86A>C (p.Gln29Pro) single nucleotide variant Inborn genetic diseases [RCV002808731] Chr4:3074905 [GRCh38]
Chr4:3076632 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001388492.1(HTT):c.104A>C (p.Gln35Pro) single nucleotide variant Inborn genetic diseases [RCV002674527] Chr4:3074923 [GRCh38]
Chr4:3076650 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_001388492.1(HTT):c.54GCA[31] (p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) microsatellite not provided [RCV003439218] Chr4:3074876..3074877 [GRCh38]
Chr4:3076603..3076604 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC109461479 COSMIC
GTEx LOC109461479 GTEx
Human Proteome Map LOC109461479 Human Proteome Map
NCBI Gene LOC109461479 ENTREZGENE