Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Autosomal Recessive Dyskeratosis Congenita 8 | | IAGP | | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Autosomal Recessive Dyskeratosis Congenita 8 | | IAGP | | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10848582 | PMID:12477932 | PMID:14702039 | PMID:15467758 | PMID:15489334 | PMID:15572677 | PMID:16344560 | PMID:16606622 | PMID:16710414 | PMID:16730175 | PMID:16730176 | PMID:18202258 |
PMID:18468965 | PMID:18469862 | PMID:18593705 | PMID:19135898 | PMID:19197158 | PMID:19411856 | PMID:20479256 | PMID:20655466 | PMID:21217703 | PMID:21478198 | PMID:21873635 | PMID:22692201 |
PMID:22907656 | PMID:23128233 | PMID:23189151 | PMID:23535729 | PMID:23863462 | PMID:24270157 | PMID:24981860 | PMID:26496610 | PMID:26582912 | PMID:29180619 | PMID:29656893 | PMID:30804502 |
PMID:31391242 | PMID:31434986 | PMID:32296183 | PMID:32694731 | PMID:32814053 | PMID:33961781 | PMID:34373451 | PMID:34387694 | PMID:34387696 | PMID:37936074 |
DCLRE1B (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dclre1b (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dclre1b (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dclre1b (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DCLRE1B (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DCLRE1B (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DCLRE1B (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DCLRE1B (Chlorocebus sabaeus - green monkey) |
|
.
Variants in DCLRE1B
139 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000542967] | Chr1:113907085 [GRCh38] Chr1:114449707 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.73C>A (p.Arg25Ser) | single nucleotide variant | not provided [RCV001725882] | Chr1:113905659 [GRCh38] Chr1:114448281 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 | copy number gain | See cases [RCV000051827] | Chr1:109756630..118650204 [GRCh38] Chr1:110299252..119192827 [GRCh37] Chr1:110100775..118994350 [NCBI36] Chr1:1p13.3-12 |
pathogenic |
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 | copy number gain | See cases [RCV000142953] | Chr1:104325484..119977655 [GRCh38] Chr1:104868106..120471049 [GRCh37] Chr1:104669629..120321801 [NCBI36] Chr1:1p21.1-12 |
pathogenic |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 | copy number loss | not provided [RCV000762767] | Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
NM_001253852.3(AP4B1):c.-35G>C | single nucleotide variant | not specified [RCV000145013] | Chr1:113904752 [GRCh38] Chr1:114447374 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV000229245]|Inborn genetic diseases [RCV002312958]|not specified [RCV000145024] | Chr1:113904649 [GRCh38] Chr1:114447271 [GRCh37] Chr1:1p13.2 |
benign|likely benign |
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000640948] | Chr1:113911976 [GRCh38] Chr1:114454598 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.807C>T (p.His269=) | single nucleotide variant | Fanconi anemia complementation group C [RCV003221328] | Chr1:113911399 [GRCh38] Chr1:114454021 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_001253852.3(AP4B1):c.-66C>G | single nucleotide variant | not specified [RCV000419540] | Chr1:113904783 [GRCh38] Chr1:114447405 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_006594.5(AP4B1):c.-78C>T | single nucleotide variant | not specified [RCV000434073] | Chr1:113904943 [GRCh38] Chr1:114447565 [GRCh37] Chr1:1p13.2 |
benign |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_022836.4(DCLRE1B):c.1342A>T (p.Arg448Trp) | single nucleotide variant | Inborn genetic diseases [RCV003271144] | Chr1:113911934 [GRCh38] Chr1:114454556 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) | single nucleotide variant | DCLRE1B-related condition [RCV003392482]|Hoyeraal-Hreidarsson syndrome [RCV000640945] | Chr1:113907024 [GRCh38] Chr1:114449646 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000640946] | Chr1:113911741 [GRCh38] Chr1:114454363 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1070C>T (p.Pro357Leu) | single nucleotide variant | Inborn genetic diseases [RCV003261058] | Chr1:113911662 [GRCh38] Chr1:114454284 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000560062] | Chr1:113905663 [GRCh38] Chr1:114448285 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000640950] | Chr1:113911439 [GRCh38] Chr1:114454061 [GRCh37] Chr1:1p13.2 |
likely benign |
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 | copy number gain | See cases [RCV000512354] | Chr1:93837992..121343783 [GRCh37] Chr1:1p22.1-11.2 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3 | copy number gain | See cases [RCV000512362] | Chr1:114011163..114803749 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) | microsatellite | Hoyeraal-Hreidarsson syndrome [RCV000640944] | Chr1:113905663..113905665 [GRCh38] Chr1:114448285..114448287 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) | duplication | Hoyeraal-Hreidarsson syndrome [RCV000640947] | Chr1:113912047..113912048 [GRCh38] Chr1:114454669..114454670 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000640949] | Chr1:113912120 [GRCh38] Chr1:114454742 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000700662] | Chr1:113911484 [GRCh38] Chr1:114454106 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000704744] | Chr1:113905722 [GRCh38] Chr1:114448344 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000691523] | Chr1:113905596 [GRCh38] Chr1:114448218 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000689595] | Chr1:113905723 [GRCh38] Chr1:114448345 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000702496]|Inborn genetic diseases [RCV003303181] | Chr1:113911848 [GRCh38] Chr1:114454470 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000704958] | Chr1:113912053 [GRCh38] Chr1:114454675 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000705370]|Inborn genetic diseases [RCV002534435] | Chr1:113911515 [GRCh38] Chr1:114454137 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs) | indel | Hereditary spastic paraplegia 47 [RCV003344024]|Inborn genetic diseases [RCV002313479]|not specified [RCV001192870] | Chr1:113904714..113904719 [GRCh38] Chr1:114447336..114447341 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:114209101-114831532)x3 | copy number gain | not provided [RCV000749141] | Chr1:114209101..114831532 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.355+239G>A | single nucleotide variant | not provided [RCV001678904] | Chr1:113907400 [GRCh38] Chr1:114450022 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.355+52T>A | single nucleotide variant | not provided [RCV001668927] | Chr1:113907213 [GRCh38] Chr1:114449835 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001394984] | Chr1:113908181 [GRCh38] Chr1:114450803 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001044361] | Chr1:113911596 [GRCh38] Chr1:114454218 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV001059198] | Chr1:113904705 [GRCh38] Chr1:114447327 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001035217] | Chr1:113911552 [GRCh38] Chr1:114454174 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001036547] | Chr1:113911967 [GRCh38] Chr1:114454589 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001036885] | Chr1:113911440 [GRCh38] Chr1:114454062 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 | copy number loss | not provided [RCV001005130] | Chr1:114024461..116189135 [GRCh37] Chr1:1p13.2-13.1 |
likely pathogenic |
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000807886] | Chr1:113907080 [GRCh38] Chr1:114449702 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001424854] | Chr1:113907079 [GRCh38] Chr1:114449701 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV000802490] | Chr1:113904662 [GRCh38] Chr1:114447284 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000803706] | Chr1:113911775 [GRCh38] Chr1:114454397 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000793746]|Inborn genetic diseases [RCV003279066] | Chr1:113911845 [GRCh38] Chr1:114454467 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000793941] | Chr1:113911542 [GRCh38] Chr1:114454164 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000798393] | Chr1:113911538 [GRCh38] Chr1:114454160 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000821514] | Chr1:113911755 [GRCh38] Chr1:114454377 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001246235] | Chr1:113911491 [GRCh38] Chr1:114454113 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001202897] | Chr1:113911281 [GRCh38] Chr1:114453903 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001223863] | Chr1:113908030 [GRCh38] Chr1:114450652 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001205991] | Chr1:113905697 [GRCh38] Chr1:114448319 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001201472] | Chr1:113911471 [GRCh38] Chr1:114454093 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001219250] | Chr1:113908047 [GRCh38] Chr1:114450669 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001201802] | Chr1:113911209 [GRCh38] Chr1:114453831 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001246543] | Chr1:113908100 [GRCh38] Chr1:114450722 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NC_000001.10:g.(?_113456513)_(116311162_?)dup | duplication | RASopathy [RCV003107709] | Chr1:113456513..116311162 [GRCh37] Chr1:1p13.2-13.1 |
uncertain significance |
NM_001319947.2(DCLRE1B):c.-330-177G>T | single nucleotide variant | not provided [RCV001673819] | Chr1:113905292 [GRCh38] Chr1:114447914 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.355+46T>A | single nucleotide variant | not provided [RCV001694945] | Chr1:113907207 [GRCh38] Chr1:114449829 [GRCh37] Chr1:1p13.2 |
benign |
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV000868865]|Hereditary spastic paraplegia [RCV001847080] | Chr1:113904669 [GRCh38] Chr1:114447291 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV000974762] | Chr1:113911894 [GRCh38] Chr1:114454516 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001503812] | Chr1:113912047 [GRCh38] Chr1:114454669 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001473343] | Chr1:113907049 [GRCh38] Chr1:114449671 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001207283] | Chr1:113907066 [GRCh38] Chr1:114449688 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001227666] | Chr1:113911952 [GRCh38] Chr1:114454574 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.-12A>G | single nucleotide variant | not provided [RCV001678418] | Chr1:113905575 [GRCh38] Chr1:114448197 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.355+74A>T | single nucleotide variant | not provided [RCV001678437] | Chr1:113907235 [GRCh38] Chr1:114449857 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001042559] | Chr1:113911344 [GRCh38] Chr1:114453966 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001319947.2(DCLRE1B):c.-331+281T>C | single nucleotide variant | not provided [RCV001684466] | Chr1:113904989 [GRCh38] Chr1:114447611 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001053843] | Chr1:113911773 [GRCh38] Chr1:114454395 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.355+75A>T | single nucleotide variant | not provided [RCV001678727] | Chr1:113907236 [GRCh38] Chr1:114449858 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.538+151T>C | single nucleotide variant | not provided [RCV001669040] | Chr1:113908342 [GRCh38] Chr1:114450964 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001037465] | Chr1:113908161 [GRCh38] Chr1:114450783 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001043016] | Chr1:113911521 [GRCh38] Chr1:114454143 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001216202] | Chr1:113908177 [GRCh38] Chr1:114450799 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001220370]|Inborn genetic diseases [RCV002563005] | Chr1:113911536 [GRCh38] Chr1:114454158 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001060141] | Chr1:113907059 [GRCh38] Chr1:114449681 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001220015] | Chr1:113911373 [GRCh38] Chr1:114453995 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001219103] | Chr1:113905627 [GRCh38] Chr1:114448249 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001236447] | Chr1:113911931 [GRCh38] Chr1:114454553 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001216754] | Chr1:113911780 [GRCh38] Chr1:114454402 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001035139] | Chr1:113911650 [GRCh38] Chr1:114454272 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001071103] | Chr1:113911425 [GRCh38] Chr1:114454047 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001308251] | Chr1:113911830 [GRCh38] Chr1:114454452 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001351070] | Chr1:113907086 [GRCh38] Chr1:114449708 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) | copy number loss | Seizure [RCV001352640] | Chr1:102021465..119737478 [GRCh37] Chr1:1p21.2-12 |
pathogenic |
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001304187] | Chr1:113911685 [GRCh38] Chr1:114454307 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001312964] | Chr1:113912189 [GRCh38] Chr1:114454811 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001327866] | Chr1:113911740 [GRCh38] Chr1:114454362 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001314036] | Chr1:113911869 [GRCh38] Chr1:114454491 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001361481] | Chr1:113905764 [GRCh38] Chr1:114448386 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) | single nucleotide variant | Dyskeratosis congenita, autosomal recessive 8 [RCV002463464]|Hoyeraal-Hreidarsson syndrome [RCV001361631] | Chr1:113908125 [GRCh38] Chr1:114450747 [GRCh37] Chr1:1p13.2 |
pathogenic|uncertain significance |
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001360840] | Chr1:113907147 [GRCh38] Chr1:114449769 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001364179] | Chr1:113912111 [GRCh38] Chr1:114454733 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001364293] | Chr1:113911553 [GRCh38] Chr1:114454175 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001306541] | Chr1:113905774 [GRCh38] Chr1:114448396 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001367774] | Chr1:113912025 [GRCh38] Chr1:114454647 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001412730] | Chr1:113911450 [GRCh38] Chr1:114454072 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001395794] | Chr1:113905601 [GRCh38] Chr1:114448223 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001316874] | Chr1:113911632 [GRCh38] Chr1:114454254 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001395021] | Chr1:113911729 [GRCh38] Chr1:114454351 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001365851] | Chr1:113907032 [GRCh38] Chr1:114449654 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001521546]|not provided [RCV001692425] | Chr1:113907040 [GRCh38] Chr1:114449662 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001431211] | Chr1:113911432 [GRCh38] Chr1:114454054 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001463372] | Chr1:113905721 [GRCh38] Chr1:114448343 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001466395] | Chr1:113911960 [GRCh38] Chr1:114454582 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001474822] | Chr1:113911174 [GRCh38] Chr1:114453796 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001463976] | Chr1:113911324 [GRCh38] Chr1:114453946 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001447228] | Chr1:113912092 [GRCh38] Chr1:114454714 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001410701] | Chr1:113911238 [GRCh38] Chr1:114453860 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001445505] | Chr1:113905739 [GRCh38] Chr1:114448361 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_001319947.2(DCLRE1B):c.-330-315C>G | single nucleotide variant | not provided [RCV001694745] | Chr1:113905154 [GRCh38] Chr1:114447776 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001450437] | Chr1:113905598 [GRCh38] Chr1:114448220 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001481984] | Chr1:113911585 [GRCh38] Chr1:114454207 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001486284] | Chr1:113911363 [GRCh38] Chr1:114453985 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV001521544]|Hoyeraal-Hreidarsson syndrome [RCV001521545]|not provided [RCV001651069] | Chr1:113905767 [GRCh38] Chr1:114448389 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.355+73_355+74insTA | insertion | not provided [RCV001613899] | Chr1:113907234..113907235 [GRCh38] Chr1:114449856..114449857 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001459561] | Chr1:113908083 [GRCh38] Chr1:114450705 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001487191] | Chr1:113911934 [GRCh38] Chr1:114454556 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001459222] | Chr1:113911345 [GRCh38] Chr1:114453967 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.355+79A>T | single nucleotide variant | not provided [RCV001698632] | Chr1:113907240 [GRCh38] Chr1:114449862 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.355+73T>A | single nucleotide variant | not provided [RCV001683770] | Chr1:113907234 [GRCh38] Chr1:114449856 [GRCh37] Chr1:1p13.2 |
benign |
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001442162] | Chr1:113912026 [GRCh38] Chr1:114454648 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001478609] | Chr1:113911432 [GRCh38] Chr1:114454054 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001441472] | Chr1:113905685 [GRCh38] Chr1:114448307 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001435613] | Chr1:113908172 [GRCh38] Chr1:114450794 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV001863930] | Chr1:113904666 [GRCh38] Chr1:114447288 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) | copy number loss | not specified [RCV002053503] | Chr1:95046805..114714931 [GRCh37] Chr1:1p21.3-13.2 |
pathogenic |
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) | copy number gain | not specified [RCV002053602] | Chr1:111647582..121343783 [GRCh37] Chr1:1p13.3-11.2 |
pathogenic |
NM_006594.5(AP4B1):c.-77+5G>A | single nucleotide variant | Hereditary spastic paraplegia [RCV001847494] | Chr1:113904937 [GRCh38] Chr1:114447559 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV002018370] | Chr1:113904651 [GRCh38] Chr1:114447273 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001961964]|Inborn genetic diseases [RCV002550365] | Chr1:113911776 [GRCh38] Chr1:114454398 [GRCh37] Chr1:1p13.2 |
likely benign|uncertain significance |
NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV001938031] | Chr1:113904715 [GRCh38] Chr1:114447337 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.190-3C>G | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV002010082] | Chr1:113906993 [GRCh38] Chr1:114449615 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV001954526] | Chr1:113911939 [GRCh38] Chr1:114454561 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV001952209] | Chr1:113904627 [GRCh38] Chr1:114447249 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) | single nucleotide variant | Hoyeraal-Hreidarsson syndrome [RCV002161217] | Chr1:113911345 [GRCh38] Chr1:114453967 [GRCh37] Chr1:1p13.2 |
likely benign |
NC_000001.10:g.(?_112318699)_(115576848_?)del | deletion | Hereditary spastic paraplegia 47 [RCV003109541] | Chr1:112318699..115576848 [GRCh37] Chr1:1p13.2 |
pathogenic |
NC_000001.10:g.(?_111145905)_(114454813_?)del | deletion | not provided [RCV003113195] | Chr1:111145905..114454813 [GRCh37] Chr1:1p13.3-13.2 |
pathogenic |
NM_022836.4(DCLRE1B):c.426A>T (p.Leu142Phe) | single nucleotide variant | Dyskeratosis congenita, autosomal recessive 8 [RCV002462817] | Chr1:113908079 [GRCh38] Chr1:114450701 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_022836.4(DCLRE1B):c.364C>T (p.Arg122Ter) | single nucleotide variant | Dyskeratosis congenita, autosomal recessive 8 [RCV002462818] | Chr1:113908017 [GRCh38] Chr1:114450639 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_022836.4(DCLRE1B):c.425T>C (p.Leu142Ser) | single nucleotide variant | Dyskeratosis congenita, autosomal recessive 8 [RCV002462819] | Chr1:113908078 [GRCh38] Chr1:114450700 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_001253852.3(AP4B1):c.59C>T (p.Pro20Leu) | single nucleotide variant | Inborn genetic diseases [RCV002357948] | Chr1:113904659 [GRCh38] Chr1:114447281 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1444C>T (p.Pro482Ser) | single nucleotide variant | Inborn genetic diseases [RCV002774156] | Chr1:113912036 [GRCh38] Chr1:114454658 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV002510692] | Chr1:113904681 [GRCh38] Chr1:114447303 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.694G>A (p.Val232Ile) | single nucleotide variant | Inborn genetic diseases [RCV002905811] | Chr1:113911286 [GRCh38] Chr1:114453908 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.703A>G (p.Met235Val) | single nucleotide variant | Inborn genetic diseases [RCV002732974] | Chr1:113911295 [GRCh38] Chr1:114453917 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1448T>C (p.Leu483Pro) | single nucleotide variant | Inborn genetic diseases [RCV002930609] | Chr1:113912040 [GRCh38] Chr1:114454662 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.1586A>G (p.His529Arg) | single nucleotide variant | Inborn genetic diseases [RCV002808807] | Chr1:113912178 [GRCh38] Chr1:114454800 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.38T>C (p.Leu13Pro) | single nucleotide variant | Inborn genetic diseases [RCV002792209] | Chr1:113904680 [GRCh38] Chr1:114447302 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV003070256] | Chr1:113904631 [GRCh38] Chr1:114447253 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.395C>T (p.Ala132Val) | single nucleotide variant | Inborn genetic diseases [RCV003214848] | Chr1:113908048 [GRCh38] Chr1:114450670 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.61G>C (p.Ala21Pro) | single nucleotide variant | Inborn genetic diseases [RCV003260928] | Chr1:113905647 [GRCh38] Chr1:114448269 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly) | single nucleotide variant | Fanconi anemia complementation group C [RCV003221327] | Chr1:113907054 [GRCh38] Chr1:114449676 [GRCh37] Chr1:1p13.2 |
pathogenic |
NM_022836.4(DCLRE1B):c.473G>A (p.Arg158Gln) | single nucleotide variant | Inborn genetic diseases [RCV003346021] | Chr1:113908126 [GRCh38] Chr1:114450748 [GRCh37] Chr1:1p13.2 |
likely benign |
NM_022836.4(DCLRE1B):c.509G>A (p.Arg170Gln) | single nucleotide variant | Inborn genetic diseases [RCV003349559] | Chr1:113908162 [GRCh38] Chr1:114450784 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_022836.4(DCLRE1B):c.1272G>T (p.Met424Ile) | single nucleotide variant | Inborn genetic diseases [RCV003374633] | Chr1:113911864 [GRCh38] Chr1:114454486 [GRCh37] Chr1:1p13.2 |
uncertain significance |
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 | copy number loss | not provided [RCV003483294] | Chr1:110066946..116672408 [GRCh37] Chr1:1p13.3-13.1 |
pathogenic |
GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3 | copy number gain | not provided [RCV003484031] | Chr1:114121742..114665485 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg) | single nucleotide variant | Hereditary spastic paraplegia 47 [RCV003641169] | Chr1:113904677 [GRCh38] Chr1:114447299 [GRCh37] Chr1:1p13.2 |
uncertain significance |
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs) | microsatellite | Hereditary spastic paraplegia 47 [RCV003827593] | Chr1:113904665..113904666 [GRCh38] Chr1:114447287..114447288 [GRCh37] Chr1:1p13.2 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 129 | 120 | 45 | 35 | 612 | 38 | 361 | 57 | 220 | 77 | 243 | 270 | 9 | 4 | 109 | 3 | ||
Low | 2307 | 2748 | 1634 | 550 | 1322 | 388 | 3890 | 1947 | 3484 | 336 | 1215 | 1342 | 165 | 1 | 1200 | 2573 | 3 | 2 |
Below cutoff | 2 | 122 | 47 | 39 | 17 | 39 | 106 | 193 | 29 | 6 | 2 | 1 | 1 | 106 |
RefSeq Transcripts | NG_057565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001319946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001319947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_022836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF306690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF306691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF306692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF306693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI669133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK022872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK024060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL137856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY849379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC029687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR936679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA414122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR005221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000466480 ⟹ ENSP00000497696 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000648795 ⟹ ENSP00000497557 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650450 ⟹ ENSP00000498042 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000650596 ⟹ ENSP00000497882 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000697125 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000697126 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001319946 ⟹ NP_001306875 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001319947 ⟹ NP_001306876 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363690 ⟹ NP_001350619 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363691 ⟹ NP_001350620 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_022836 ⟹ NP_073747 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001306875 | (Get FASTA) | NCBI Sequence Viewer |
NP_001306876 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350619 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350620 | (Get FASTA) | NCBI Sequence Viewer | |
NP_073747 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH29687 | (Get FASTA) | NCBI Sequence Viewer |
AAV97812 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14284 | (Get FASTA) | NCBI Sequence Viewer | |
BAB14807 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56582 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56583 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000497557.1 | ||
ENSP00000497696.1 | |||
ENSP00000497882.1 | |||
ENSP00000498042 | |||
ENSP00000498042.1 | |||
GenBank Protein | Q9H816 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_073747 ⟸ NM_022836 |
- Peptide Label: | isoform a |
- UniProtKB: | Q9H9E5 (UniProtKB/Swiss-Prot), Q9H816 (UniProtKB/Swiss-Prot), A0A3B3ITQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001306876 ⟸ NM_001319947 |
- Peptide Label: | isoform b |
- UniProtKB: | Q9H816 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001306875 ⟸ NM_001319946 |
- Peptide Label: | isoform b |
- Sequence: |
RefSeq Acc Id: | NP_001350619 ⟸ NM_001363690 |
- Peptide Label: | isoform c |
RefSeq Acc Id: | NP_001350620 ⟸ NM_001363691 |
- Peptide Label: | isoform d |
RefSeq Acc Id: | ENSP00000497557 ⟸ ENST00000648795 |
RefSeq Acc Id: | ENSP00000497696 ⟸ ENST00000466480 |
RefSeq Acc Id: | ENSP00000498042 ⟸ ENST00000650450 |
RefSeq Acc Id: | ENSP00000497882 ⟸ ENST00000650596 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9H816-F1-model_v2 | AlphaFold | Q9H816 | 1-532 | view protein structure |
RGD ID: | 6856694 | ||||||||
Promoter ID: | EPDNEW_H1512 | ||||||||
Type: | initiation region | ||||||||
Name: | DCLRE1B_2 | ||||||||
Description: | DNA cross-link repair 1B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H1513 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6856696 | ||||||||
Promoter ID: | EPDNEW_H1513 | ||||||||
Type: | initiation region | ||||||||
Name: | DCLRE1B_1 | ||||||||
Description: | DNA cross-link repair 1B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H1512 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6785005 | ||||||||
Promoter ID: | HG_KWN:4215 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000033020, OTTHUMT00000033021, UC001EEI.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:17641 | AgrOrtholog |
COSMIC | DCLRE1B | COSMIC |
Ensembl Genes | ENSG00000118655 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000466480.2 | UniProtKB/TrEMBL |
ENST00000648795.1 | UniProtKB/TrEMBL | |
ENST00000650450 | ENTREZGENE | |
ENST00000650450.2 | UniProtKB/Swiss-Prot | |
ENST00000650596.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.50.12650 | UniProtKB/Swiss-Prot |
3.60.15.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000118655 | GTEx |
HGNC ID | HGNC:17641 | ENTREZGENE |
Human Proteome Map | DCLRE1B | Human Proteome Map |
InterPro | DRMBL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RibonucZ/Hydroxyglut_hydro | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:64858 | UniProtKB/Swiss-Prot |
NCBI Gene | 64858 | ENTREZGENE |
OMIM | 609683 | OMIM |
PANTHER | 5' EXONUCLEASE APOLLO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DNA CROSS-LINK REPAIR PROTEIN PSO2/SNM1-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DRMBL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | DCLRE1B | RGD, PharmGKB |
Superfamily-SCOP | SSF56281 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A3B3IT16_HUMAN | UniProtKB/TrEMBL |
A0A3B3ITQ0 | ENTREZGENE, UniProtKB/TrEMBL | |
DCR1B_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q9H9E5 | ENTREZGENE | |
UniProt Secondary | Q9H9E5 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-07-27 | DCLRE1B | DNA cross-link repair 1B | DCLRE1B | DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) | Symbol and/or name change | 5135510 | APPROVED |