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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Weight Gain | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19030233 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Weight Gain | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19030233 | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:10801173 | PMID:10931155 | PMID:11230739 | PMID:11826415 | PMID:12477932 | PMID:15146197 | PMID:16230358 | PMID:16344560 | PMID:17142313 | PMID:17194211 | PMID:19608919 | PMID:19683415 |
PMID:20471133 | PMID:20623998 | PMID:20920667 | PMID:21873635 | PMID:22190034 | PMID:23112913 | PMID:23667531 | PMID:23966103 | PMID:25190812 | PMID:25437307 | PMID:25609649 | PMID:26115735 |
PMID:26186194 | PMID:26673895 | PMID:26888482 | PMID:27173435 | PMID:27432908 | PMID:27576344 | PMID:28133863 | PMID:28514442 | PMID:28675297 | PMID:29845934 | PMID:30561431 | PMID:32296183 |
PMID:32353859 | PMID:32707033 | PMID:33060197 | PMID:33961781 | PMID:34884733 | PMID:35091508 | PMID:35831314 |
SEPSECS (Homo sapiens - human) |
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Sepsecs (Mus musculus - house mouse) |
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Sepsecs (Rattus norvegicus - Norway rat) |
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Sepsecs (Chinchilla lanigera - long-tailed chinchilla) |
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SEPSECS (Pan paniscus - bonobo/pygmy chimpanzee) |
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SEPSECS (Canis lupus familiaris - dog) |
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Sepsecs (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SEPSECS (Sus scrofa - pig) |
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SEPSECS (Chlorocebus sabaeus - green monkey) |
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Sepsecs (Heterocephalus glaber - naked mole-rat) |
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Variants in SEPSECS
310 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000000436]|not provided [RCV001380416] | Chr4:25144799 [GRCh38] Chr4:25146421 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000000437]|Pontoneocerebellar hypoplasia [RCV001582489]|not provided [RCV001380417] | Chr4:25152049 [GRCh38] Chr4:25153671 [GRCh37] Chr4:4p15.2 |
pathogenic|likely 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 4p16.3-15.2(chr4:51519-26519788)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] | Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2 |
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 4p16.3-14(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 |
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] | Chr4:21056309..26732162 [GRCh38] Chr4:21057932..26733784 [GRCh37] Chr4:20667030..26342882 [NCBI36] Chr4:4p15.31-15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.535A>G (p.Met179Val) | single nucleotide variant | not provided [RCV000658062] | Chr4:25156049 [GRCh38] Chr4:25157671 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=) | single nucleotide variant | not provided [RCV000118323] | Chr4:25156095 [GRCh38] Chr4:25157717 [GRCh37] Chr4:4p15.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000392056]|not provided [RCV000889945]|not specified [RCV000118324] | Chr4:25151984 [GRCh38] Chr4:25153606 [GRCh37] Chr4:4p15.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_016955.4(SEPSECS):c.1211+7A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000400873]|not provided [RCV001511858]|not specified [RCV000118325] | Chr4:25125687 [GRCh38] Chr4:25127309 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000284502]|not provided [RCV001511157]|not specified [RCV000118326] | Chr4:25124081 [GRCh38] Chr4:25125703 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145216]|not provided [RCV000966905]|not specified [RCV000118327] | Chr4:25124043 [GRCh38] Chr4:25125665 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.935-5T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000364027]|not provided [RCV001514700]|not specified [RCV000118328] | Chr4:25144870 [GRCh38] Chr4:25146492 [GRCh37] Chr4:4p15.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000170363]|not provided [RCV001565090] | Chr4:25123971 [GRCh38] Chr4:25125593 [GRCh37] Chr4:4p15.2 |
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 4p15.2(chr4:23862000-27685546)x1 | copy number loss | See cases [RCV000135404] | Chr4:23862000..27685546 [GRCh38] Chr4:23863623..27687168 [GRCh37] Chr4:23472721..27296266 [NCBI36] Chr4:4p15.2 |
pathogenic |
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 | copy number loss | See cases [RCV000135806] | Chr4:16925022..32113076 [GRCh38] Chr4:16926645..32114698 [GRCh37] Chr4:16535743..31758596 [NCBI36] Chr4:4p15.32-15.1 |
pathogenic|likely pathogenic |
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 |
NM_018176.3(LGI2):c.-473617_-693dup | duplication | Gestational diabetes mellitus uncontrolled [RCV000161338] | Chr4:25031386..25504310 [GRCh38] Chr4:25033008..25505932 [GRCh37] Chr4:4p15.2 |
not provided |
NM_016955.4(SEPSECS):c.1028_1120+1del | deletion | Cerebellar ataxia [RCV000162172] | Chr4:25127263..25127356 [GRCh38] Chr4:25128885..25128978 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.115-18dup | duplication | Pontocerebellar hypoplasia type 2D [RCV001833140]|not provided [RCV001636717]|not specified [RCV000193641] | Chr4:25159110..25159111 [GRCh38] Chr4:25160732..25160733 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.*2840T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000262653] | Chr4:25121091 [GRCh38] Chr4:25122713 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
NM_016955.5(SEPSECS):c.808dup | duplication | Pontocerebellar hypoplasia type 2D [RCV000625974]|not provided [RCV000396553] | Chr4:25145129..25145130 [GRCh38] Chr4:25146751..25146752 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.1271C>A (p.Ser424Ter) | single nucleotide variant | not specified [RCV000194695] | Chr4:25124166 [GRCh38] Chr4:25125788 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 | copy number loss | See cases [RCV000240003] | Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.*253A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000279676] | Chr4:25123678 [GRCh38] Chr4:25125300 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 | copy number gain | See cases [RCV000240562] | Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_016955.4(SEPSECS):c.*2645A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000268636] | Chr4:25121286 [GRCh38] Chr4:25122908 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001834702]|not provided [RCV000520472] | Chr4:25156093 [GRCh38] Chr4:25157715 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV000449078] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_016955.4(SEPSECS):c.*610G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000266311] | Chr4:25123321 [GRCh38] Chr4:25124943 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 | copy number loss | See cases [RCV000240221] | Chr4:23458442..29252060 [GRCh37] Chr4:4p15.2-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.*454C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000272625] | Chr4:25123477 [GRCh38] Chr4:25125099 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
NM_016955.4(SEPSECS):c.*271G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000333685] | Chr4:25123660 [GRCh38] Chr4:25125282 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1041T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000300629] | Chr4:25122890 [GRCh38] Chr4:25124512 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*236_*237insTTT | insertion | Pontoneocerebellar hypoplasia [RCV000334763]|not provided [RCV001547375] | Chr4:25123694..25123695 [GRCh38] Chr4:25125316..25125317 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*2694A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000377149] | Chr4:25121237 [GRCh38] Chr4:25122859 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*638G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000301729] | Chr4:25123293 [GRCh38] Chr4:25124915 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*1614T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000336244] | Chr4:25122317 [GRCh38] Chr4:25123939 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*807A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000355435] | Chr4:25123124 [GRCh38] Chr4:25124746 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.*2990G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000357470] | Chr4:25120941 [GRCh38] Chr4:25122563 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1120+12T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000304645]|not provided [RCV001514003]|not specified [RCV000434822] | Chr4:25127252 [GRCh38] Chr4:25128874 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000339643]|not provided [RCV001591008] | Chr4:25124161 [GRCh38] Chr4:25125783 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2209A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000288520] | Chr4:25121722 [GRCh38] Chr4:25123344 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*2123A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000383691] | Chr4:25121808 [GRCh38] Chr4:25123430 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
NM_016955.4(SEPSECS):c.*681A>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000407194] | Chr4:25123250 [GRCh38] Chr4:25124872 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.*2300A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000323677] | Chr4:25121631 [GRCh38] Chr4:25123253 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*455C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000362191] | Chr4:25123476 [GRCh38] Chr4:25125098 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*354C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000292446] | Chr4:25123577 [GRCh38] Chr4:25125199 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*371_*372del | deletion | Pontoneocerebellar hypoplasia [RCV000386976] | Chr4:25123559..25123560 [GRCh38] Chr4:25125181..25125182 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*254_*257del | deletion | Pontoneocerebellar hypoplasia [RCV000388145]|not provided [RCV001591007] | Chr4:25123674..25123677 [GRCh38] Chr4:25125296..25125299 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.*3775A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000346071] | Chr4:25120156 [GRCh38] Chr4:25121778 [GRCh37] Chr4:4p15.2 |
benign|uncertain significance |
NM_016955.4(SEPSECS):c.*3848C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000309990] | Chr4:25120083 [GRCh38] Chr4:25121705 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.269+9_269+12del | deletion | Pontoneocerebellar hypoplasia [RCV000310046]|not provided [RCV000923630] | Chr4:25158941..25158944 [GRCh38] Chr4:25160563..25160566 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.*3402A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000310990] | Chr4:25120529 [GRCh38] Chr4:25122151 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.*3234T>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000370355] | Chr4:25120697 [GRCh38] Chr4:25122319 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.3(SEPSECS):c.-160C>T | single nucleotide variant | Pontoneocerebellar hypoplasia [RCV000370419]|not provided [RCV001561175] | Chr4:25160529 [GRCh38] Chr4:25162151 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.3(SEPSECS):c.-147dup | duplication | Pontoneocerebellar hypoplasia [RCV000274750]|not provided [RCV001613151] | Chr4:25160508..25160509 [GRCh38] Chr4:25162130..25162131 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.3(SEPSECS):c.-147_-146dup | duplication | Pontoneocerebellar hypoplasia [RCV000329745]|not provided [RCV001584062] | Chr4:25160508..25160509 [GRCh38] Chr4:25162130..25162131 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.*3134C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000275799] | Chr4:25120797 [GRCh38] Chr4:25122419 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*6G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277780] | Chr4:25123925 [GRCh38] Chr4:25125547 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277781] | Chr4:25123976 [GRCh38] Chr4:25125598 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277787] | Chr4:25124215 [GRCh38] Chr4:25125837 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1211+155G>T | single nucleotide variant | not provided [RCV001547992] | Chr4:25125539 [GRCh38] Chr4:25127161 [GRCh37] Chr4:4p15.2 |
likely benign |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | See cases [RCV002292704] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_016955.4(SEPSECS):c.388+141_388+148del | deletion | not provided [RCV001571505] | Chr4:25156708..25156715 [GRCh38] Chr4:25158330..25158337 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001278312] | Chr4:25156085 [GRCh38] Chr4:25157707 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*112T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000399970] | Chr4:25123819 [GRCh38] Chr4:25125441 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1622T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000400606] | Chr4:25122309 [GRCh38] Chr4:25123931 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2250A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000382921] | Chr4:25121681 [GRCh38] Chr4:25123303 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2179T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000347758] | Chr4:25121752 [GRCh38] Chr4:25123374 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4] | microsatellite | Pontoneocerebellar hypoplasia [RCV000364681] | Chr4:25160484..25160488 [GRCh38] Chr4:25162106..25162110 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1727G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000294013] | Chr4:25122204 [GRCh38] Chr4:25123826 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1635G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000348908] | Chr4:25122296 [GRCh38] Chr4:25123918 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1574T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000407211] | Chr4:25122357 [GRCh38] Chr4:25123979 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2708G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000322497] | Chr4:25121223 [GRCh38] Chr4:25122845 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*3082A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000298085] | Chr4:25120849 [GRCh38] Chr4:25122471 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*3402AAT[1] | microsatellite | Pontoneocerebellar hypoplasia [RCV000392470] | Chr4:25120524..25120526 [GRCh38] Chr4:25122146..25122148 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*470T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000326174] | Chr4:25123461 [GRCh38] Chr4:25125083 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*420G>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000327759] | Chr4:25123511 [GRCh38] Chr4:25125133 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1620C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000314009] | Chr4:25122311 [GRCh38] Chr4:25123933 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*612G>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000361034] | Chr4:25123319 [GRCh38] Chr4:25124941 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.294C>T (p.Ser98=) | single nucleotide variant | not provided [RCV000930356]|not specified [RCV000603532] | Chr4:25156950 [GRCh38] Chr4:25158572 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+5G>A | single nucleotide variant | Congenital cerebellar hypoplasia [RCV000415364]|Pontocerebellar hypoplasia type 2D [RCV001197502] | Chr4:25156851 [GRCh38] Chr4:25158473 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NC_000004.11:g.25146752C>CC | single nucleotide variant | not provided [RCV000734589] | Chr4:25146752 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 | copy number gain | See cases [RCV000446451] | Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 | copy number gain | See cases [RCV000446653] | Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1464A>G (p.Leu488=) | single nucleotide variant | not provided [RCV001483206]|not specified [RCV000434870] | Chr4:25123973 [GRCh38] Chr4:25125595 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+3A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001333939]|not provided [RCV000428576]|not specified [RCV002265757] | Chr4:25156853 [GRCh38] Chr4:25158475 [GRCh37] Chr4:4p15.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 | copy number loss | See cases [RCV000445756] | Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1 |
likely pathogenic |
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001834574]|not provided [RCV000485487] | Chr4:25144778 [GRCh38] Chr4:25146400 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) | copy number gain | See cases [RCV000510453] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001829417]|not provided [RCV000498150] | Chr4:25155115 [GRCh38] Chr4:25156737 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.548-1G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001834608]|not provided [RCV000498347] | Chr4:25155152 [GRCh38] Chr4:25156774 [GRCh37] Chr4:4p15.2 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 | copy number gain | See cases [RCV000511193] | Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1 |
pathogenic |
NM_016955.4(SEPSECS):c.355A>G (p.Asn119Asp) | single nucleotide variant | Inborn genetic diseases [RCV000623270] | Chr4:25156889 [GRCh38] Chr4:25158511 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.612dup (p.Val205fs) | duplication | Inborn genetic diseases [RCV000624315] | Chr4:25155086..25155087 [GRCh38] Chr4:25156708..25156709 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000625975]|not provided [RCV001462752]|not specified [RCV001553762] | Chr4:25145092 [GRCh38] Chr4:25146714 [GRCh37] Chr4:4p15.2 |
likely pathogenic|likely benign|uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 | copy number gain | See cases [RCV000512241] | Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001829820]|not provided [RCV000658063] | Chr4:25156195 [GRCh38] Chr4:25157817 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 | copy number gain | not provided [RCV000682363] | Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 | copy number loss | not provided [RCV000682373] | Chr4:4165334..33324781 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001579254] | Chr4:25145115 [GRCh38] Chr4:25146737 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1120+104T>C | single nucleotide variant | not provided [RCV001582166] | Chr4:25127160 [GRCh38] Chr4:25128782 [GRCh37] Chr4:4p15.2 |
likely benign |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 | copy number gain | not provided [RCV000743155] | Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 | copy number gain | not provided [RCV000743156] | Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 | copy number gain | not provided [RCV000743147] | Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 | copy number gain | not provided [RCV000743201] | Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 | copy number gain | not provided [RCV000743154] | Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12 |
pathogenic |
NM_016955.4(SEPSECS):c.114+84C>T | single nucleotide variant | not provided [RCV001534040] | Chr4:25160172 [GRCh38] Chr4:25161794 [GRCh37] Chr4:4p15.2 |
likely benign |
Single allele | single nucleotide variant | not provided [RCV001666623] | Chr4:25160758 [GRCh38] Chr4:25162380 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275663]|not provided [RCV000760845] | Chr4:25151998 [GRCh38] Chr4:25153620 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.805-312A>T | single nucleotide variant | not provided [RCV001566319] | Chr4:25145445 [GRCh38] Chr4:25147067 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-10T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148075]|not provided [RCV001477084] | Chr4:25156205 [GRCh38] Chr4:25157827 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.772C>T (p.Gln258Ter) | single nucleotide variant | not provided [RCV001057337] | Chr4:25151992 [GRCh38] Chr4:25153614 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001030789] | Chr4:25159041 [GRCh38] Chr4:25160663 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*352A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149512] | Chr4:25123579 [GRCh38] Chr4:25125201 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*328A>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149513] | Chr4:25123603 [GRCh38] Chr4:25125225 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1031G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147069] | Chr4:25122900 [GRCh38] Chr4:25124522 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.474A>G (p.Lys158=) | single nucleotide variant | not provided [RCV000921535] | Chr4:25156110 [GRCh38] Chr4:25157732 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1215T>C (p.Val405=) | single nucleotide variant | not provided [RCV000982624] | Chr4:25124222 [GRCh38] Chr4:25125844 [GRCh37] Chr4:4p15.2 |
likely benign |
NC_000004.12:g.(?_25156846)_(25156984_?)del | deletion | not provided [RCV001031090] | Chr4:25158468..25158606 [GRCh37] Chr4:4p15.2 |
pathogenic |
NC_000004.12:g.(?_25151950)_(25152072_?)del | deletion | not provided [RCV001031973] | Chr4:25153572..25153694 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.501G>A (p.Trp167Ter) | single nucleotide variant | not provided [RCV001070148] | Chr4:25156083 [GRCh38] Chr4:25157705 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000779439]|Spastic ataxia [RCV001644813]|not specified [RCV002298768] | Chr4:25124044 [GRCh38] Chr4:25125666 [GRCh37] Chr4:4p15.2 |
pathogenic|uncertain significance |
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) | copy number loss | not provided [RCV000767707] | Chr4:12778849..27760141 [GRCh37] Chr4:4p15.33-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.582A>G (p.Glu194=) | single nucleotide variant | not provided [RCV000942683] | Chr4:25155117 [GRCh38] Chr4:25156739 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1027-9T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275736]|not provided [RCV000927879] | Chr4:25127366 [GRCh38] Chr4:25128988 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1027-7G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147180]|not provided [RCV000861024] | Chr4:25127364 [GRCh38] Chr4:25128986 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.388+10G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275738]|not provided [RCV000861615] | Chr4:25156846 [GRCh38] Chr4:25158468 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000984512] | Chr4:25144800 [GRCh38] Chr4:25146422 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147178]|not provided [RCV000860771] | Chr4:25125777 [GRCh38] Chr4:25127399 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV002507382]|not provided [RCV000799457] | Chr4:25156955 [GRCh38] Chr4:25158577 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.388+9C>T | single nucleotide variant | not provided [RCV000914047] | Chr4:25156847 [GRCh38] Chr4:25158469 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+256G>A | single nucleotide variant | not provided [RCV000828461] | Chr4:25156600 [GRCh38] Chr4:25158222 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.588C>T (p.Asp196=) | single nucleotide variant | not provided [RCV000976709] | Chr4:25155111 [GRCh38] Chr4:25156733 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV000791203] | Chr4:25124163 [GRCh38] Chr4:25125785 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.701+137T>C | single nucleotide variant | not provided [RCV000828940] | Chr4:25154861 [GRCh38] Chr4:25156483 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147177] | Chr4:25125724 [GRCh38] Chr4:25127346 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2480T>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149414] | Chr4:25121451 [GRCh38] Chr4:25123073 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.3(SEPSECS):c.-265T>G | single nucleotide variant | not provided [RCV000829698] | Chr4:25160634 [GRCh38] Chr4:25162256 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.*2966A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147869] | Chr4:25120965 [GRCh38] Chr4:25122587 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.*2916A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147871] | Chr4:25121015 [GRCh38] Chr4:25122637 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1121-1G>T | single nucleotide variant | not provided [RCV000792598] | Chr4:25125785 [GRCh38] Chr4:25127407 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.*3870A>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001146962] | Chr4:25120061 [GRCh38] Chr4:25121683 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1027-17A>G | single nucleotide variant | not provided [RCV000828025] | Chr4:25127374 [GRCh38] Chr4:25128996 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.270-154A>G | single nucleotide variant | not provided [RCV000830918] | Chr4:25157128 [GRCh38] Chr4:25158750 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1026+224A>G | single nucleotide variant | not provided [RCV000830919] | Chr4:25144550 [GRCh38] Chr4:25146172 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148076]|not provided [RCV000939971] | Chr4:25160325 [GRCh38] Chr4:25161947 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.1120+150G>A | single nucleotide variant | not provided [RCV001581679] | Chr4:25127114 [GRCh38] Chr4:25128736 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275737]|not provided [RCV000861450] | Chr4:25145019 [GRCh38] Chr4:25146641 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.269+85T>G | single nucleotide variant | not provided [RCV000832323] | Chr4:25158868 [GRCh38] Chr4:25160490 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*2618C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149413] | Chr4:25121313 [GRCh38] Chr4:25122935 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*223G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149515] | Chr4:25123708 [GRCh38] Chr4:25125330 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.*1122C>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147068] | Chr4:25122809 [GRCh38] Chr4:25124431 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.420T>A (p.Val140=) | single nucleotide variant | not provided [RCV000975670] | Chr4:25156164 [GRCh38] Chr4:25157786 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.449dup (p.Cys151fs) | duplication | not provided [RCV001056075] | Chr4:25156134..25156135 [GRCh38] Chr4:25157756..25157757 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145217] | Chr4:25124111 [GRCh38] Chr4:25125733 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.107_108insAA (p.Glu37fs) | insertion | not provided [RCV001241376] | Chr4:25160262..25160263 [GRCh38] Chr4:25161884..25161885 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.41C>A (p.Ser14Ter) | single nucleotide variant | not provided [RCV001226200] | Chr4:25160329 [GRCh38] Chr4:25161951 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001175102] | Chr4:25160275 [GRCh38] Chr4:25161897 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*327G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001149514] | Chr4:25123604 [GRCh38] Chr4:25125226 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.652_653del (p.Leu218fs) | deletion | not provided [RCV001009054] | Chr4:25155046..25155047 [GRCh38] Chr4:25156668..25156669 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.804+126_804+127del | microsatellite | not provided [RCV001548266] | Chr4:25151833..25151834 [GRCh38] Chr4:25153455..25153456 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+121_388+122dup | duplication | not provided [RCV001560466] | Chr4:25156707..25156708 [GRCh38] Chr4:25158329..25158330 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+191C>T | single nucleotide variant | not provided [RCV001586882] | Chr4:25156665 [GRCh38] Chr4:25158287 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+146_388+148del | deletion | not provided [RCV001685988] | Chr4:25156708..25156710 [GRCh38] Chr4:25158330..25158332 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1211+198C>T | single nucleotide variant | not provided [RCV001582236] | Chr4:25125496 [GRCh38] Chr4:25127118 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1026+89C>T | single nucleotide variant | not provided [RCV001609640] | Chr4:25144685 [GRCh38] Chr4:25146307 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275662]|not provided [RCV000861527] | Chr4:25144777 [GRCh38] Chr4:25146399 [GRCh37] Chr4:4p15.2 |
benign|likely benign |
NM_016955.4(SEPSECS):c.1212-10C>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275735]|not provided [RCV000977433] | Chr4:25124235 [GRCh38] Chr4:25125857 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001275734]|not provided [RCV000910152] | Chr4:25124146 [GRCh38] Chr4:25125768 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1089G>A (p.Leu363=) | single nucleotide variant | not provided [RCV000975541] | Chr4:25127295 [GRCh38] Chr4:25128917 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.367C>T (p.Leu123=) | single nucleotide variant | not provided [RCV000975629] | Chr4:25156877 [GRCh38] Chr4:25158499 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1383A>G (p.Val461=) | single nucleotide variant | not provided [RCV000975692] | Chr4:25124054 [GRCh38] Chr4:25125676 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1212-7C>T | single nucleotide variant | not provided [RCV000931968] | Chr4:25124232 [GRCh38] Chr4:25125854 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1290T>C (p.Pro430=) | single nucleotide variant | not provided [RCV000928840] | Chr4:25124147 [GRCh38] Chr4:25125769 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.60G>A (p.Gln20=) | single nucleotide variant | not provided [RCV000977601] | Chr4:25160310 [GRCh38] Chr4:25161932 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.*1591G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147067] | Chr4:25122340 [GRCh38] Chr4:25123962 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1008T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147070] | Chr4:25122923 [GRCh38] Chr4:25124545 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1120+8C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147179]|not provided [RCV002070785] | Chr4:25127256 [GRCh38] Chr4:25128878 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 | copy number loss | not provided [RCV001005527] | Chr4:20406475..29134345 [GRCh37] Chr4:4p15.31-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.389-52A>G | single nucleotide variant | not provided [RCV001553183] | Chr4:25156247 [GRCh38] Chr4:25157869 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-213A>C | single nucleotide variant | not provided [RCV001556163] | Chr4:25155364 [GRCh38] Chr4:25156986 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.114+339C>T | single nucleotide variant | not provided [RCV001720829] | Chr4:25159917 [GRCh38] Chr4:25161539 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.115-4del | deletion | Pontocerebellar hypoplasia type 2D [RCV001827590]|not provided [RCV001719375] | Chr4:25159111 [GRCh38] Chr4:25160733 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.389-138T>G | single nucleotide variant | not provided [RCV001639151] | Chr4:25156333 [GRCh38] Chr4:25157955 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) | single nucleotide variant | not provided [RCV001596551] | Chr4:25160369 [GRCh38] Chr4:25161991 [GRCh37] Chr4:4p15.2 |
pathogenic |
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 | copy number gain | not provided [RCV001005510] | Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.*1659C>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145115] | Chr4:25122272 [GRCh38] Chr4:25123894 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*1648G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145116] | Chr4:25122283 [GRCh38] Chr4:25123905 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.388+121dup | duplication | not provided [RCV001666841] | Chr4:25156707..25156708 [GRCh38] Chr4:25158329..25158330 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.115-240_115-236del | deletion | not provided [RCV001533897] | Chr4:25159343..25159347 [GRCh38] Chr4:25160965..25160969 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.443dup (p.Thr149fs) | duplication | not provided [RCV001063704] | Chr4:25156140..25156141 [GRCh38] Chr4:25157762..25157763 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.*1637G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145117] | Chr4:25122294 [GRCh38] Chr4:25123916 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145215] | Chr4:25123932 [GRCh38] Chr4:25125554 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.389-45del | deletion | not provided [RCV001669799] | Chr4:25156240 [GRCh38] Chr4:25157862 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.114+163C>G | single nucleotide variant | not provided [RCV001540702] | Chr4:25160093 [GRCh38] Chr4:25161715 [GRCh37] Chr4:4p15.2 |
benign |
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 | copy number gain | See cases [RCV001194594] | Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11 |
pathogenic |
NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001145218] | Chr4:25124180 [GRCh38] Chr4:25125802 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147181]|not provided [RCV001760105] | Chr4:25155065 [GRCh38] Chr4:25156687 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2921A>G | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147870] | Chr4:25121010 [GRCh38] Chr4:25122632 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.*2871T>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001147872] | Chr4:25121060 [GRCh38] Chr4:25122682 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.389-8A>C | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001148074]|not provided [RCV001394107] | Chr4:25156203 [GRCh38] Chr4:25157825 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001278309] | Chr4:25127264 [GRCh38] Chr4:25128886 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001278313] | Chr4:25158958 [GRCh38] Chr4:25160580 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.114+3A>G | single nucleotide variant | Neurodevelopmental abnormality [RCV001264723]|not provided [RCV001281617] | Chr4:25160253 [GRCh38] Chr4:25161875 [GRCh37] Chr4:4p15.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277786] | Chr4:25124187 [GRCh38] Chr4:25125809 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001263151] | Chr4:25145126 [GRCh38] Chr4:25146748 [GRCh37] Chr4:4p15.2 |
likely pathogenic|uncertain significance |
NM_016955.4(SEPSECS):c.448_449del (p.Leu150fs) | microsatellite | not provided [RCV001382709] | Chr4:25156135..25156136 [GRCh38] Chr4:25157757..25157758 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277782] | Chr4:25123984 [GRCh38] Chr4:25125606 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.804+4A>T | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001278311] | Chr4:25151956 [GRCh38] Chr4:25153578 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.389-6T>A | single nucleotide variant | not provided [RCV001415197] | Chr4:25156201 [GRCh38] Chr4:25157823 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.382C>T (p.Leu128=) | single nucleotide variant | not provided [RCV001415013] | Chr4:25156862 [GRCh38] Chr4:25158484 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.241T>C (p.Ser81Pro) | single nucleotide variant | not provided [RCV001373792] | Chr4:25158981 [GRCh38] Chr4:25160603 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277784] | Chr4:25124086 [GRCh38] Chr4:25125708 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001278310]|not provided [RCV001493960] | Chr4:25144840 [GRCh38] Chr4:25146462 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001328978] | Chr4:25158966 [GRCh38] Chr4:25160588 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277783] | Chr4:25124047 [GRCh38] Chr4:25125669 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001277785]|not provided [RCV001470323] | Chr4:25124117 [GRCh38] Chr4:25125739 [GRCh37] Chr4:4p15.2 |
likely benign|uncertain significance |
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) | microsatellite | Pontocerebellar hypoplasia type 2D [RCV002266042]|not provided [RCV001867264] | Chr4:25144774..25144777 [GRCh38] Chr4:25146396..25146399 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.115-1G>C | single nucleotide variant | not provided [RCV001377639] | Chr4:25159108 [GRCh38] Chr4:25160730 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.389-1G>A | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001831342]|not provided [RCV001377482] | Chr4:25156196 [GRCh38] Chr4:25157818 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.934+9_934+12del | microsatellite | not provided [RCV001504624] | Chr4:25144992..25144995 [GRCh38] Chr4:25146614..25146617 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.701+10T>A | single nucleotide variant | not provided [RCV001475259] | Chr4:25154988 [GRCh38] Chr4:25156610 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.702-3_705del | deletion | not provided [RCV001378095] | Chr4:25152059..25152065 [GRCh38] Chr4:25153681..25153687 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.247C>T (p.Leu83=) | single nucleotide variant | not provided [RCV001483125] | Chr4:25158975 [GRCh38] Chr4:25160597 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1344C>T (p.Asp448=) | single nucleotide variant | not provided [RCV001417648] | Chr4:25124093 [GRCh38] Chr4:25125715 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.903A>C (p.Ser301=) | single nucleotide variant | not provided [RCV001436447] | Chr4:25145035 [GRCh38] Chr4:25146657 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.75C>T (p.Arg25=) | single nucleotide variant | not provided [RCV001431246] | Chr4:25160295 [GRCh38] Chr4:25161917 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1179G>A (p.Ser393=) | single nucleotide variant | not provided [RCV001454986] | Chr4:25125726 [GRCh38] Chr4:25127348 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.243C>T (p.Ser81=) | single nucleotide variant | not provided [RCV001459853] | Chr4:25158979 [GRCh38] Chr4:25160601 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1476T>G (p.Leu492=) | single nucleotide variant | not provided [RCV001480752] | Chr4:25123961 [GRCh38] Chr4:25125583 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.450G>T (p.Leu150=) | single nucleotide variant | not provided [RCV001474439] | Chr4:25156134 [GRCh38] Chr4:25157756 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.547+10G>A | single nucleotide variant | not provided [RCV001492976] | Chr4:25156027 [GRCh38] Chr4:25157649 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.939A>G (p.Arg313=) | single nucleotide variant | not provided [RCV001487278] | Chr4:25144861 [GRCh38] Chr4:25146483 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.313C>T (p.Gln105Ter) | single nucleotide variant | not provided [RCV001384097] | Chr4:25156931 [GRCh38] Chr4:25158553 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.804+4AG[2] | microsatellite | not provided [RCV001489872] | Chr4:25151951..25151952 [GRCh38] Chr4:25153573..25153574 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.684T>G (p.Ala228=) | single nucleotide variant | not provided [RCV001501893] | Chr4:25155015 [GRCh38] Chr4:25156637 [GRCh37] Chr4:4p15.2 |
likely benign |
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 | copy number gain | not provided [RCV001537928] | Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1 |
pathogenic |
NM_016955.4(SEPSECS):c.666T>C (p.Ser222=) | single nucleotide variant | not provided [RCV001471594] | Chr4:25155033 [GRCh38] Chr4:25156655 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1026+8T>C | single nucleotide variant | not provided [RCV001409607] | Chr4:25144766 [GRCh38] Chr4:25146388 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.835del (p.Val279fs) | deletion | not provided [RCV001381255] | Chr4:25145103 [GRCh38] Chr4:25146725 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1263C>T (p.Gly421=) | single nucleotide variant | not provided [RCV001446681] | Chr4:25124174 [GRCh38] Chr4:25125796 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1455T>C (p.Ala485=) | single nucleotide variant | not provided [RCV001426750] | Chr4:25123982 [GRCh38] Chr4:25125604 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.115-4T>C | single nucleotide variant | not provided [RCV001441824] | Chr4:25159111 [GRCh38] Chr4:25160733 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.31C>A (p.Arg11=) | single nucleotide variant | not provided [RCV001408365] | Chr4:25160339 [GRCh38] Chr4:25161961 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter) | single nucleotide variant | not provided [RCV001385362] | Chr4:25156118 [GRCh38] Chr4:25157740 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.375T>C (p.Ile125=) | single nucleotide variant | not provided [RCV001440256] | Chr4:25156869 [GRCh38] Chr4:25158491 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.975T>G (p.Thr325=) | single nucleotide variant | not provided [RCV001408496] | Chr4:25144825 [GRCh38] Chr4:25146447 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.701+7G>T | single nucleotide variant | not provided [RCV001411037] | Chr4:25154991 [GRCh38] Chr4:25156613 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.669T>G (p.Thr223=) | single nucleotide variant | not provided [RCV001445422] | Chr4:25155030 [GRCh38] Chr4:25156652 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.807G>C (p.Gly269=) | single nucleotide variant | not provided [RCV001448088] | Chr4:25145131 [GRCh38] Chr4:25146753 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) | duplication | not provided [RCV001385772] | Chr4:25125756..25125757 [GRCh38] Chr4:25127378..25127379 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV002499811]|not provided [RCV001389025] | Chr4:25145127 [GRCh38] Chr4:25146749 [GRCh37] Chr4:4p15.2 |
pathogenic|likely pathogenic |
NM_016955.4(SEPSECS):c.1191C>T (p.Thr397=) | single nucleotide variant | not provided [RCV001404349] | Chr4:25125714 [GRCh38] Chr4:25127336 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.701+246G>A | single nucleotide variant | not provided [RCV001590880] | Chr4:25154752 [GRCh38] Chr4:25156374 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.84T>C (p.His28=) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001832625]|not provided [RCV001479231] | Chr4:25160286 [GRCh38] Chr4:25161908 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001725797] | Chr4:25160369 [GRCh38] Chr4:25161991 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.115-8_115-7insC | insertion | not provided [RCV001516071] | Chr4:25159114..25159115 [GRCh38] Chr4:25160736..25160737 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.702-10A>G | single nucleotide variant | not provided [RCV001510848] | Chr4:25152072 [GRCh38] Chr4:25153694 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.702-8G>A | single nucleotide variant | not provided [RCV001487237] | Chr4:25152070 [GRCh38] Chr4:25153692 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-185C>T | single nucleotide variant | not provided [RCV001589555] | Chr4:25155336 [GRCh38] Chr4:25156958 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-209del | deletion | not provided [RCV001672016] | Chr4:25156404 [GRCh38] Chr4:25158026 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.1038A>G (p.Ser346=) | single nucleotide variant | not provided [RCV001487766] | Chr4:25127346 [GRCh38] Chr4:25128968 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.279T>C (p.His93=) | single nucleotide variant | not provided [RCV001487768] | Chr4:25156965 [GRCh38] Chr4:25158587 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-197G>A | single nucleotide variant | not provided [RCV001586965] | Chr4:25155348 [GRCh38] Chr4:25156970 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.270-300G>T | single nucleotide variant | not provided [RCV001592667] | Chr4:25157274 [GRCh38] Chr4:25158896 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.90C>T (p.His30=) | single nucleotide variant | not provided [RCV001478276] | Chr4:25160280 [GRCh38] Chr4:25161902 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1063T>C (p.Leu355=) | single nucleotide variant | not provided [RCV001501500] | Chr4:25127321 [GRCh38] Chr4:25128943 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+139_388+148del | deletion | not provided [RCV001674641] | Chr4:25156708..25156717 [GRCh38] Chr4:25158330..25158339 [GRCh37] Chr4:4p15.2 |
benign |
NM_016955.4(SEPSECS):c.702-293del | deletion | not provided [RCV001530650] | Chr4:25152355 [GRCh38] Chr4:25153977 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.228A>G (p.Glu76=) | single nucleotide variant | not provided [RCV001462487] | Chr4:25158994 [GRCh38] Chr4:25160616 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1143T>C (p.Asp381=) | single nucleotide variant | not provided [RCV001456745] | Chr4:25125762 [GRCh38] Chr4:25127384 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.114+8G>C | single nucleotide variant | not provided [RCV001481377] | Chr4:25160248 [GRCh38] Chr4:25161870 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.819T>C (p.Gly273=) | single nucleotide variant | not provided [RCV001417315] | Chr4:25145119 [GRCh38] Chr4:25146741 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1357A>C (p.Arg453=) | single nucleotide variant | not provided [RCV001469999] | Chr4:25124080 [GRCh38] Chr4:25125702 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1434T>C (p.Asp478=) | single nucleotide variant | not provided [RCV001458443] | Chr4:25124003 [GRCh38] Chr4:25125625 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.888T>C (p.Ala296=) | single nucleotide variant | not provided [RCV001491509] | Chr4:25145050 [GRCh38] Chr4:25146672 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1266T>C (p.Phe422=) | single nucleotide variant | not provided [RCV001505144] | Chr4:25124171 [GRCh38] Chr4:25125793 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.444A>G (p.Leu148=) | single nucleotide variant | not provided [RCV001443167] | Chr4:25156140 [GRCh38] Chr4:25157762 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1211+9G>A | single nucleotide variant | not provided [RCV001438325] | Chr4:25125685 [GRCh38] Chr4:25127307 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1341G>A (p.Val447=) | single nucleotide variant | not provided [RCV001432555] | Chr4:25124096 [GRCh38] Chr4:25125718 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.639G>A (p.Gly213=) | single nucleotide variant | not provided [RCV001415841] | Chr4:25155060 [GRCh38] Chr4:25156682 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1089G>T (p.Leu363=) | single nucleotide variant | not provided [RCV001436544] | Chr4:25127295 [GRCh38] Chr4:25128917 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.945A>G (p.Ser315=) | single nucleotide variant | not provided [RCV001443632] | Chr4:25144855 [GRCh38] Chr4:25146477 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1497T>G (p.Ala499=) | single nucleotide variant | not provided [RCV001504010] | Chr4:25123940 [GRCh38] Chr4:25125562 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.531A>G (p.Lys177=) | single nucleotide variant | not provided [RCV001504027] | Chr4:25156053 [GRCh38] Chr4:25157675 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1290T>A (p.Pro430=) | single nucleotide variant | not provided [RCV001499614] | Chr4:25124147 [GRCh38] Chr4:25125769 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.783G>A (p.Lys261=) | single nucleotide variant | not provided [RCV001416824] | Chr4:25151981 [GRCh38] Chr4:25153603 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1441A>G (p.Ile481Val) | single nucleotide variant | not provided [RCV001756285] | Chr4:25123996 [GRCh38] Chr4:25125618 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.140A>G (p.Asp47Gly) | single nucleotide variant | not provided [RCV001763919] | Chr4:25159082 [GRCh38] Chr4:25160704 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.760G>A (p.Ala254Thr) | single nucleotide variant | not provided [RCV001764010] | Chr4:25152004 [GRCh38] Chr4:25153626 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.74G>T (p.Arg25Leu) | single nucleotide variant | not provided [RCV001756757] | Chr4:25160296 [GRCh38] Chr4:25161918 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.436A>G (p.Met146Val) | single nucleotide variant | not provided [RCV001765737] | Chr4:25156148 [GRCh38] Chr4:25157770 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1213G>T (p.Val405Phe) | single nucleotide variant | not provided [RCV001754258] | Chr4:25124224 [GRCh38] Chr4:25125846 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) | single nucleotide variant | Pontocerebellar hypoplasia type 2D [RCV001799578] | Chr4:25156117 [GRCh38] Chr4:25157739 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.671C>T (p.Thr224Ile) | single nucleotide variant | not provided [RCV001929366] | Chr4:25155028 [GRCh38] Chr4:25156650 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1496C>T (p.Ala499Val) | single nucleotide variant | not provided [RCV001927215] | Chr4:25123941 [GRCh38] Chr4:25125563 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.903del (p.Phe302fs) | deletion | not provided [RCV001928406] | Chr4:25145035 [GRCh38] Chr4:25146657 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1111A>C (p.Ile371Leu) | single nucleotide variant | not provided [RCV001912777] | Chr4:25127273 [GRCh38] Chr4:25128895 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1360C>A (p.Leu454Ile) | single nucleotide variant | not provided [RCV001914471] | Chr4:25124077 [GRCh38] Chr4:25125699 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.908_911del (p.Ile303fs) | microsatellite | not provided [RCV001950169] | Chr4:25145027..25145030 [GRCh38] Chr4:25146649..25146652 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1150C>T (p.Arg384Cys) | single nucleotide variant | not provided [RCV001985302] | Chr4:25125755 [GRCh38] Chr4:25127377 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) | copy number loss | not specified [RCV002053409] | Chr4:19892850..37325128 [GRCh37] Chr4:4p15.31-14 |
pathogenic |
NM_016955.4(SEPSECS):c.214G>A (p.Val72Met) | single nucleotide variant | not provided [RCV001894940] | Chr4:25159008 [GRCh38] Chr4:25160630 [GRCh37] Chr4:4p15.2 |
uncertain significance |
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) | copy number loss | not specified [RCV002053411] | Chr4:23790131..32302608 [GRCh37] Chr4:4p15.2-15.1 |
likely pathogenic |
NM_016955.4(SEPSECS):c.94A>G (p.Ile32Val) | single nucleotide variant | not provided [RCV001823404] | Chr4:25160276 [GRCh38] Chr4:25161898 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.124C>A (p.Pro42Thr) | single nucleotide variant | not provided [RCV001948617] | Chr4:25159098 [GRCh38] Chr4:25160720 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1432G>A (p.Asp478Asn) | single nucleotide variant | not provided [RCV001961880] | Chr4:25124005 [GRCh38] Chr4:25125627 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1222C>G (p.Leu408Val) | single nucleotide variant | not provided [RCV001980139] | Chr4:25124215 [GRCh38] Chr4:25125837 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.114+1G>T | single nucleotide variant | not provided [RCV001959259] | Chr4:25160255 [GRCh38] Chr4:25161877 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.935-2A>G | single nucleotide variant | not provided [RCV001999677] | Chr4:25144867 [GRCh38] Chr4:25146489 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.32G>C (p.Arg11Pro) | single nucleotide variant | not provided [RCV002038948] | Chr4:25160338 [GRCh38] Chr4:25161960 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.389-13_404del | deletion | not provided [RCV001977136] | Chr4:25156180..25156208 [GRCh38] Chr4:25157802..25157830 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.480_481insC (p.Lys161fs) | insertion | not provided [RCV002037837] | Chr4:25156103..25156104 [GRCh38] Chr4:25157725..25157726 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.805-2A>G | single nucleotide variant | not provided [RCV002038755] | Chr4:25145135 [GRCh38] Chr4:25146757 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.1406G>A (p.Ser469Asn) | single nucleotide variant | not provided [RCV001943745] | Chr4:25124031 [GRCh38] Chr4:25125653 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1207G>A (p.Ala403Thr) | single nucleotide variant | not provided [RCV001973269] | Chr4:25125698 [GRCh38] Chr4:25127320 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NC_000004.11:g.(?_25146376)_(25146775_?)del | deletion | not provided [RCV001956232] | Chr4:25146376..25146775 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1169_1173del (p.Gln390fs) | deletion | not provided [RCV001952779] | Chr4:25125732..25125736 [GRCh38] Chr4:25127354..25127358 [GRCh37] Chr4:4p15.2 |
pathogenic |
NC_000004.11:g.(?_25160565)_(25162001_?)del | deletion | not provided [RCV001975198] | Chr4:25160565..25162001 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1145A>G (p.Glu382Gly) | single nucleotide variant | not provided [RCV002012924] | Chr4:25125760 [GRCh38] Chr4:25127382 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.595C>T (p.Arg199Cys) | single nucleotide variant | not provided [RCV001979988] | Chr4:25155104 [GRCh38] Chr4:25156726 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.269+2T>C | single nucleotide variant | not provided [RCV002048346] | Chr4:25158951 [GRCh38] Chr4:25160573 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.631del (p.Glu211fs) | deletion | not provided [RCV001994861] | Chr4:25155068 [GRCh38] Chr4:25156690 [GRCh37] Chr4:4p15.2 |
pathogenic |
NC_000004.11:g.(?_25128876)_(25128989_?)del | deletion | not provided [RCV001960561] | Chr4:25128876..25128989 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.361_362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTACCAATTCTT (p.Leu121fs) | insertion | not provided [RCV001923636] | Chr4:25156882..25156883 [GRCh38] Chr4:25158504..25158505 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.482del (p.Lys161fs) | deletion | not provided [RCV001886107] | Chr4:25156102 [GRCh38] Chr4:25157724 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1178C>A (p.Ser393Ter) | single nucleotide variant | not provided [RCV001924077] | Chr4:25125727 [GRCh38] Chr4:25127349 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.388+1G>A | single nucleotide variant | not provided [RCV001998643] | Chr4:25156855 [GRCh38] Chr4:25158477 [GRCh37] Chr4:4p15.2 |
likely pathogenic |
NM_016955.4(SEPSECS):c.506G>A (p.Arg169Gln) | single nucleotide variant | not provided [RCV002018601] | Chr4:25156078 [GRCh38] Chr4:25157700 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.154del (p.Glu52fs) | deletion | not provided [RCV001899880] | Chr4:25159068 [GRCh38] Chr4:25160690 [GRCh37] Chr4:4p15.2 |
pathogenic |
NM_016955.4(SEPSECS):c.1111A>G (p.Ile371Val) | single nucleotide variant | not provided [RCV001955146] | Chr4:25127273 [GRCh38] Chr4:25128895 [GRCh37] Chr4:4p15.2 |
uncertain significance |
NM_016955.4(SEPSECS):c.1503A>G (p.Ser501=) | single nucleotide variant | not provided [RCV002185642] | Chr4:25123934 [GRCh38] Chr4:25125556 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.648C>T (p.Cys216=) | single nucleotide variant | not provided [RCV002072529] | Chr4:25155051 [GRCh38] Chr4:25156673 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.174T>C (p.Leu58=) | single nucleotide variant | not provided [RCV002209579] | Chr4:25159048 [GRCh38] Chr4:25160670 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-10G>A | single nucleotide variant | not provided [RCV002206319] | Chr4:25155161 [GRCh38] Chr4:25156783 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-14G>A | single nucleotide variant | not provided [RCV002205408] | Chr4:25155165 [GRCh38] Chr4:25156787 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-5T>C | single nucleotide variant | not provided [RCV002165808] | Chr4:25156200 [GRCh38] Chr4:25157822 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1120+9T>G | single nucleotide variant | not provided [RCV002205486] | Chr4:25127255 [GRCh38] Chr4:25128877 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.273C>T (p.Phe91=) | single nucleotide variant | not provided [RCV002128066] | Chr4:25156971 [GRCh38] Chr4:25158593 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.897T>C (p.Asn299=) | single nucleotide variant | not provided [RCV002196113] | Chr4:25145041 [GRCh38] Chr4:25146663 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.159C>T (p.Leu53=) | single nucleotide variant | not provided [RCV002213448] | Chr4:25159063 [GRCh38] Chr4:25160685 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.804+9G>A | single nucleotide variant | not provided [RCV002207644] | Chr4:25151951 [GRCh38] Chr4:25153573 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.24G>T (p.Ala8=) | single nucleotide variant | not provided [RCV002110830] | Chr4:25160346 [GRCh38] Chr4:25161968 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-11_389-9del | microsatellite | not provided [RCV002151302] | Chr4:25156204..25156206 [GRCh38] Chr4:25157826..25157828 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.312G>A (p.Val104=) | single nucleotide variant | not provided [RCV002086675] | Chr4:25156932 [GRCh38] Chr4:25158554 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1027-4G>C | single nucleotide variant | not provided [RCV002152546] | Chr4:25127361 [GRCh38] Chr4:25128983 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.72C>T (p.Ala24=) | single nucleotide variant | not provided [RCV002206586] | Chr4:25160298 [GRCh38] Chr4:25161920 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1005G>A (p.Lys335=) | single nucleotide variant | not provided [RCV002215894] | Chr4:25144795 [GRCh38] Chr4:25146417 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.666T>G (p.Ser222=) | single nucleotide variant | not provided [RCV002150466] | Chr4:25155033 [GRCh38] Chr4:25156655 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.681T>C (p.Phe227=) | single nucleotide variant | not provided [RCV002216016] | Chr4:25155018 [GRCh38] Chr4:25156640 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.388+12C>G | single nucleotide variant | not provided [RCV002097390] | Chr4:25156844 [GRCh38] Chr4:25158466 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1485A>T (p.Thr495=) | single nucleotide variant | not provided [RCV002151547] | Chr4:25123952 [GRCh38] Chr4:25125574 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.807G>T (p.Gly269=) | single nucleotide variant | not provided [RCV002093857] | Chr4:25145131 [GRCh38] Chr4:25146753 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.621T>C (p.Ala207=) | single nucleotide variant | not provided [RCV002116206] | Chr4:25155078 [GRCh38] Chr4:25156700 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.366C>T (p.Val122=) | single nucleotide variant | not provided [RCV002110363] | Chr4:25156878 [GRCh38] Chr4:25158500 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.699T>C (p.Asp233=) | single nucleotide variant | not provided [RCV002097254] | Chr4:25155000 [GRCh38] Chr4:25156622 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.171A>G (p.Glu57=) | single nucleotide variant | not provided [RCV002214614] | Chr4:25159051 [GRCh38] Chr4:25160673 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.771G>A (p.Val257=) | single nucleotide variant | not provided [RCV002091013] | Chr4:25151993 [GRCh38] Chr4:25153615 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.795C>G (p.Leu265=) | single nucleotide variant | not provided [RCV002194742] | Chr4:25151969 [GRCh38] Chr4:25153591 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.693G>T (p.Val231=) | single nucleotide variant | not provided [RCV002194780] | Chr4:25155006 [GRCh38] Chr4:25156628 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.805-14_805-10del | deletion | not provided [RCV002173643] | Chr4:25145143..25145147 [GRCh38] Chr4:25146765..25146769 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1212-14C>T | single nucleotide variant | not provided [RCV002188756] | Chr4:25124239 [GRCh38] Chr4:25125861 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.318A>G (p.Pro106=) | single nucleotide variant | not provided [RCV002131021] | Chr4:25156926 [GRCh38] Chr4:25158548 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1209C>T (p.Ala403=) | single nucleotide variant | not provided [RCV002134539] | Chr4:25125696 [GRCh38] Chr4:25127318 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.115-16T>G | single nucleotide variant | not provided [RCV002207323] | Chr4:25159123 [GRCh38] Chr4:25160745 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.150A>G (p.Thr50=) | single nucleotide variant | not provided [RCV002152566] | Chr4:25159072 [GRCh38] Chr4:25160694 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1368G>A (p.Arg456=) | single nucleotide variant | not provided [RCV002197119] | Chr4:25124069 [GRCh38] Chr4:25125691 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1419T>C (p.Tyr473=) | single nucleotide variant | not provided [RCV002201094] | Chr4:25124018 [GRCh38] Chr4:25125640 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.435T>C (p.Gly145=) | single nucleotide variant | not provided [RCV002179237] | Chr4:25156149 [GRCh38] Chr4:25157771 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.558T>C (p.Pro186=) | single nucleotide variant | not provided [RCV002157790] | Chr4:25155141 [GRCh38] Chr4:25156763 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.132T>C (p.Asn44=) | single nucleotide variant | not provided [RCV002203983] | Chr4:25159090 [GRCh38] Chr4:25160712 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1026+19T>C | single nucleotide variant | not provided [RCV002137927] | Chr4:25144755 [GRCh38] Chr4:25146377 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.513C>T (p.Asp171=) | single nucleotide variant | not provided [RCV002124135] | Chr4:25156071 [GRCh38] Chr4:25157693 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1089G>C (p.Leu363=) | single nucleotide variant | not provided [RCV002142095] | Chr4:25127295 [GRCh38] Chr4:25128917 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.285T>C (p.Ile95=) | single nucleotide variant | not provided [RCV002203528] | Chr4:25156959 [GRCh38] Chr4:25158581 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1110C>T (p.Pro370=) | single nucleotide variant | not provided [RCV002083300] | Chr4:25127274 [GRCh38] Chr4:25128896 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.39G>C (p.Val13=) | single nucleotide variant | not provided [RCV002118262] | Chr4:25160331 [GRCh38] Chr4:25161953 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-7T>C | single nucleotide variant | not provided [RCV002101586] | Chr4:25156202 [GRCh38] Chr4:25157824 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.417A>G (p.Val139=) | single nucleotide variant | not provided [RCV002081260] | Chr4:25156167 [GRCh38] Chr4:25157789 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.411C>T (p.Cys137=) | single nucleotide variant | not provided [RCV002121299] | Chr4:25156173 [GRCh38] Chr4:25157795 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.186C>T (p.Asp62=) | single nucleotide variant | not provided [RCV002103231] | Chr4:25159036 [GRCh38] Chr4:25160658 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1362T>G (p.Leu454=) | single nucleotide variant | not provided [RCV002184616] | Chr4:25124075 [GRCh38] Chr4:25125697 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.935-6T>C | single nucleotide variant | not provided [RCV002221093] | Chr4:25144871 [GRCh38] Chr4:25146493 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.771G>T (p.Val257=) | single nucleotide variant | not provided [RCV002179882] | Chr4:25151993 [GRCh38] Chr4:25153615 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.390T>C (p.Gly130=) | single nucleotide variant | not provided [RCV002198867] | Chr4:25156194 [GRCh38] Chr4:25157816 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.363G>A (p.Leu121=) | single nucleotide variant | not provided [RCV002140050] | Chr4:25156881 [GRCh38] Chr4:25158503 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.504A>G (p.Pro168=) | single nucleotide variant | not provided [RCV002159361] | Chr4:25156080 [GRCh38] Chr4:25157702 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.548-10G>C | single nucleotide variant | not provided [RCV002135609] | Chr4:25155161 [GRCh38] Chr4:25156783 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.389-6T>C | single nucleotide variant | not provided [RCV002198537] | Chr4:25156201 [GRCh38] Chr4:25157823 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.1120+9T>C | single nucleotide variant | not provided [RCV002183929] | Chr4:25127255 [GRCh38] Chr4:25128877 [GRCh37] Chr4:4p15.2 |
likely benign |
NM_016955.4(SEPSECS):c.805-8G>A | single nucleotide variant | not provided [RCV002198804] | Chr4:25145141 [GRCh38] Chr4:25146763 [GRCh37] Chr4:4p15.2 |
likely benign |
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 | copy number gain | FETAL DEMISE [RCV002282978] | Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12 |
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. |
SHGC-79143 |
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SHGC-105226 |
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SHGC-64855 |
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RH46210 |
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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 | 279 | 53 | 626 | 314 | 676 | 311 | 869 | 50 | 425 | 147 | 432 | 515 | 7 | 133 | 588 | 1 | ||
Low | 2160 | 2740 | 1100 | 310 | 1106 | 154 | 3488 | 2118 | 3300 | 272 | 1028 | 1098 | 167 | 1 | 1071 | 2200 | 5 | 2 |
Below cutoff | 198 | 169 | 29 | 9 |
RefSeq Transcripts | NG_028222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001410714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_016955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011513848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017008278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047415762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC007073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC104662 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF146396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF282065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ238617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ277541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL133065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW515989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC012188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC117202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX648976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN429794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA155173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000358971 ⟹ ENSP00000351857 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000382103 ⟹ ENSP00000371535 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000503150 ⟹ ENSP00000423850 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000505513 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000513285 ⟹ ENSP00000423361 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000514585 ⟹ ENSP00000421880 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000515272 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000680581 ⟹ ENSP00000506483 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000680824 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000681071 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000681166 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000681341 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000681374 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000681640 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000681948 ⟹ ENSP00000505991 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_016955 ⟹ NP_058651 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513846 ⟹ XP_011512148 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513847 ⟹ XP_011512149 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011513848 ⟹ XP_011512150 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017008277 ⟹ XP_016863766 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_047415762 ⟹ XP_047271718 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001397643 | (Get FASTA) | NCBI Sequence Viewer |
NP_058651 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011512148 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011512149 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011512150 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016863766 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047271718 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD33963 | (Get FASTA) | NCBI Sequence Viewer |
AAG00491 | (Get FASTA) | NCBI Sequence Viewer | |
AAH23539 | (Get FASTA) | NCBI Sequence Viewer | |
AAI17203 | (Get FASTA) | NCBI Sequence Viewer | |
AAI26214 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85165 | (Get FASTA) | NCBI Sequence Viewer | |
CAB62209 | (Get FASTA) | NCBI Sequence Viewer | |
CAB89517 | (Get FASTA) | NCBI Sequence Viewer | |
EAW92831 | (Get FASTA) | NCBI Sequence Viewer | |
EAW92832 | (Get FASTA) | NCBI Sequence Viewer | |
EAW92833 | (Get FASTA) | NCBI Sequence Viewer | |
EAW92834 | (Get FASTA) | NCBI Sequence Viewer | |
EAW92835 | (Get FASTA) | NCBI Sequence Viewer | |
Q9HD40 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_058651 ⟸ NM_016955 |
- UniProtKB: | Q9Y353 (UniProtKB/Swiss-Prot), Q9HD40 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011512150 ⟸ XM_011513848 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q9HD40 (UniProtKB/Swiss-Prot), A1A4F3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011512148 ⟸ XM_011513846 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9HD40 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011512149 ⟸ XM_011513847 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_016863766 ⟸ XM_017008277 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | ENSP00000423850 ⟸ ENST00000503150 |
RefSeq Acc Id: | ENSP00000423361 ⟸ ENST00000513285 |
RefSeq Acc Id: | ENSP00000421880 ⟸ ENST00000514585 |
RefSeq Acc Id: | ENSP00000371535 ⟸ ENST00000382103 |
RefSeq Acc Id: | ENSP00000351857 ⟸ ENST00000358971 |
RefSeq Acc Id: | ENSP00000505991 ⟸ ENST00000681948 |
RefSeq Acc Id: | ENSP00000506483 ⟸ ENST00000680581 |
RefSeq Acc Id: | XP_047271718 ⟸ XM_047415762 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A1A4F3 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9HD40-F1-model_v2 | AlphaFold | Q9HD40 | 1-501 | view protein structure |
RGD ID: | 6802700 | ||||||||
Promoter ID: | HG_KWN:47984 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000302922, ENST00000382103, NM_016955, UC003GRI.1, UC003GRJ.1 | ||||||||
Position: |
|
RGD ID: | 6867150 | ||||||||
Promoter ID: | EPDNEW_H6740 | ||||||||
Type: | initiation region | ||||||||
Name: | SEPSECS_1 | ||||||||
Description: | Sep (O-phosphoserine) tRNA:Sec tRNA synthase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:30605 | AgrOrtholog |
COSMIC | SEPSECS | COSMIC |
Ensembl Genes | ENSG00000109618 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000351857.3 | UniProtKB/TrEMBL |
ENSP00000371535 | ENTREZGENE | |
ENSP00000371535.2 | UniProtKB/Swiss-Prot | |
ENSP00000421880.1 | UniProtKB/Swiss-Prot | |
ENSP00000423850.1 | UniProtKB/TrEMBL | |
ENSP00000505991 | ENTREZGENE | |
ENSP00000505991.1 | UniProtKB/TrEMBL | |
ENSP00000506483.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000358971.7 | UniProtKB/TrEMBL |
ENST00000382103 | ENTREZGENE | |
ENST00000382103.7 | UniProtKB/Swiss-Prot | |
ENST00000503150.1 | UniProtKB/TrEMBL | |
ENST00000514585.5 | UniProtKB/Swiss-Prot | |
ENST00000680581.1 | UniProtKB/TrEMBL | |
ENST00000680824 | ENTREZGENE | |
ENST00000681071 | ENTREZGENE | |
ENST00000681948 | ENTREZGENE | |
ENST00000681948.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.640.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000109618 | GTEx |
HGNC ID | HGNC:30605 | ENTREZGENE |
Human Proteome Map | SEPSECS | Human Proteome Map |
InterPro | Peroxidases_heam-ligand_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PyrdxlP-dep_Trfase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PyrdxlP-dep_Trfase_major | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Sec-tRNA_Se_transferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SepSecS/SepCysS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:51091 | UniProtKB/Swiss-Prot |
NCBI Gene | 51091 | ENTREZGENE |
OMIM | 613009 | OMIM |
613811 | OMIM | |
PANTHER | PTHR12944 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | SepSecS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA162402915 | PharmGKB |
PIRSF | SepSecS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | PEROXIDASE_1 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53383 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TIGRFAMs | selenium_SpcS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A7P0TA23 | ENTREZGENE, UniProtKB/TrEMBL |
A0A7P0Z4P3_HUMAN | UniProtKB/TrEMBL | |
A1A4F3 | ENTREZGENE, UniProtKB/TrEMBL | |
H0Y9D2_HUMAN | UniProtKB/TrEMBL | |
J3KP25_HUMAN | UniProtKB/TrEMBL | |
Q9HD40 | ENTREZGENE | |
Q9Y353 | ENTREZGENE | |
SPCS_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | A8K8W1 | UniProtKB/Swiss-Prot |
Q0D2P3 | UniProtKB/Swiss-Prot | |
Q17RT1 | UniProtKB/Swiss-Prot | |
Q9NXZ5 | UniProtKB/Swiss-Prot | |
Q9UGM9 | UniProtKB/Swiss-Prot | |
Q9Y353 | UniProtKB/Swiss-Prot |