Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypoplastic left heart syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28530678 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypoplastic left heart syndrome | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28530678 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10380929 | PMID:10662547 | PMID:10716726 | PMID:10817752 | PMID:10835267 | PMID:11230163 | PMID:15372022 | PMID:21873635 | PMID:22589738 | PMID:28514442 | PMID:28625976 | PMID:32694731 |
PMID:33961781 |
PCDHA13 (Homo sapiens - human) |
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Pcdha12 (Mus musculus - house mouse) |
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Pcdha13 (Rattus norvegicus - Norway rat) |
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PCDHA13 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LOC102160959 (Sus scrofa - pig) |
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Variants in PCDHA13
105 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 | copy number gain | See cases [RCV000051193] | Chr5:130860928..155321811 [GRCh38] Chr5:130196621..154701371 [GRCh37] Chr5:130224520..154681564 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 | copy number loss | See cases [RCV000052142] | Chr5:138871137..145812309 [GRCh38] Chr5:138206826..145191872 [GRCh37] Chr5:138234725..145172065 [NCBI36] Chr5:5q31.2-32 |
pathogenic |
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 | copy number loss | See cases [RCV000053524] | Chr5:106619588..156124387 [GRCh38] Chr5:105955289..155551397 [GRCh37] Chr5:105983188..155483975 [NCBI36] Chr5:5q21.3-33.2 |
pathogenic |
NM_018904.2(PCDHA13):c.1372C>T (p.Pro458Ser) | single nucleotide variant | Malignant melanoma [RCV000061138] | Chr5:140883640 [GRCh38] Chr5:140263225 [GRCh37] Chr5:140243409 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1559G>C (p.Gly520Ala) | single nucleotide variant | Malignant melanoma [RCV000061139] | Chr5:140928451 [GRCh38] Chr5:140308036 [GRCh37] Chr5:140288220 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1672C>T (p.Pro558Ser) | single nucleotide variant | Malignant melanoma [RCV000061140] | Chr5:140928564 [GRCh38] Chr5:140308149 [GRCh37] Chr5:140288333 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.1957G>A (p.Gly653Ser) | single nucleotide variant | Malignant melanoma [RCV000061141] | Chr5:140968723 [GRCh38] Chr5:140348308 [GRCh37] Chr5:140328492 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.2742G>A (p.Gln914=) | single nucleotide variant | Malignant melanoma [RCV000061142] | Chr5:141009787 [GRCh38] Chr5:140389372 [GRCh37] Chr5:140369556 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018903.3(PCDHA12):c.2083G>A (p.Asp695Asn) | single nucleotide variant | Malignant melanoma [RCV000066686] | Chr5:140877555 [GRCh38] Chr5:140257140 [GRCh37] Chr5:140237324 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.693G>A (p.Thr231=) | single nucleotide variant | Malignant melanoma [RCV000066687] | Chr5:140882961 [GRCh38] Chr5:140262546 [GRCh37] Chr5:140242730 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.815G>A (p.Gly272Asp) | single nucleotide variant | Malignant melanoma [RCV000066688] | Chr5:140883083 [GRCh38] Chr5:140262668 [GRCh37] Chr5:140242852 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018904.2(PCDHA13):c.977G>A (p.Gly326Glu) | single nucleotide variant | Malignant melanoma [RCV000066689] | Chr5:140883245 [GRCh38] Chr5:140262830 [GRCh37] Chr5:140243014 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1688G>A (p.Gly563Asp) | single nucleotide variant | Malignant melanoma [RCV000066691] | Chr5:140928580 [GRCh38] Chr5:140308165 [GRCh37] Chr5:140288349 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.589C>T (p.Leu197Phe) | single nucleotide variant | Malignant melanoma [RCV000066692] | Chr5:140967355 [GRCh38] Chr5:140346940 [GRCh37] Chr5:140327124 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.703C>T (p.Pro235Ser) | single nucleotide variant | Malignant melanoma [RCV000066693] | Chr5:140967469 [GRCh38] Chr5:140347054 [GRCh37] Chr5:140327238 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018899.5(PCDHAC2):c.2248G>A (p.Glu750Lys) | single nucleotide variant | Malignant melanoma [RCV000066694] | Chr5:140969014 [GRCh38] Chr5:140348599 [GRCh37] Chr5:140328783 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.3(PCDHAC1):c.1359C>T (p.Phe453=) | single nucleotide variant | Malignant melanoma [RCV000066690] | Chr5:140928251 [GRCh38] Chr5:140307836 [GRCh37] Chr5:140288020 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018898.5(PCDHAC1):c.2396G>A (p.Arg799Gln) | single nucleotide variant | not provided [RCV000122558] | Chr5:140929288 [GRCh38] Chr5:140308873 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 | copy number loss | See cases [RCV000136949] | Chr5:140963199..142322798 [GRCh38] Chr5:140453735..141702363 [GRCh37] Chr5:140322968..141682547 [NCBI36] Chr5:5q31.3 |
uncertain significance |
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 | copy number gain | See cases [RCV000138808] | Chr5:129847794..153353546 [GRCh38] Chr5:129183487..152733106 [GRCh37] Chr5:129211386..152713299 [NCBI36] Chr5:5q23.3-33.2 |
pathogenic |
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 | copy number gain | See cases [RCV000142806] | Chr5:138942857..144605017 [GRCh38] Chr5:138278546..143984580 [GRCh37] Chr5:138306445..143964773 [NCBI36] Chr5:5q31.2-31.3 |
uncertain significance |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 | copy number gain | not provided [RCV000487658] | Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NC_000005.9:g.(?_86400000)_(154000000_?)del | deletion | Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] | Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 | copy number gain | See cases [RCV000449349] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 | copy number gain | See cases [RCV000448245] | Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His) | single nucleotide variant | Hirschsprung disease, susceptibility to, 1 [RCV000508600] | Chr5:140978974 [GRCh38] Chr5:140358559 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 | copy number loss | See cases [RCV000511978] | Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 | copy number gain | See cases [RCV000512039] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) | copy number gain | See cases [RCV000510723] | Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_018904.3(PCDHA13):c.1471T>G (p.Ser491Ala) | single nucleotide variant | Inborn genetic diseases [RCV003276206] | Chr5:140883739 [GRCh38] Chr5:140263324 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1337C>G (p.Ala446Gly) | single nucleotide variant | Inborn genetic diseases [RCV003255685] | Chr5:140883605 [GRCh38] Chr5:140263190 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1553A>T (p.Tyr518Phe) | single nucleotide variant | Inborn genetic diseases [RCV003255732] | Chr5:140883821 [GRCh38] Chr5:140263406 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2048C>G (p.Ser683Trp) | single nucleotide variant | Inborn genetic diseases [RCV003287281] | Chr5:140884316 [GRCh38] Chr5:140263901 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1231A>G (p.Ser411Gly) | single nucleotide variant | Inborn genetic diseases [RCV003288830] | Chr5:140883499 [GRCh38] Chr5:140263084 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.128C>A (p.Thr43Asn) | single nucleotide variant | Inborn genetic diseases [RCV003254625] | Chr5:140882396 [GRCh38] Chr5:140261981 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 | copy number loss | not provided [RCV000682600] | Chr5:139147238..141540491 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 | copy number gain | not provided [RCV000744323] | Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 | copy number gain | not provided [RCV000744317] | Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q31.3(chr5:140181892-140303139)x3 | copy number gain | not provided [RCV000745213] | Chr5:140181892..140303139 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140228262-140264271)x3 | copy number gain | not provided [RCV000745220] | Chr5:140228262..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140244335-140282431)x1 | copy number loss | not provided [RCV000745222] | Chr5:140244335..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140266429-140298815)x0 | copy number loss | not provided [RCV000745223] | Chr5:140266429..140298815 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140101612-140271424)x3 | copy number gain | not provided [RCV000745200] | Chr5:140101612..140271424 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140102539-140347053)x1 | copy number loss | not provided [RCV000745201] | Chr5:140102539..140347053 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140264271)x3 | copy number gain | not provided [RCV000745204] | Chr5:140115433..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140282431)x1 | copy number loss | not provided [RCV000745205] | Chr5:140115433..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140115433-140344242)x1 | copy number loss | not provided [RCV000745206] | Chr5:140115433..140344242 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140162610-140282431)x1 | copy number loss | not provided [RCV000745207] | Chr5:140162610..140282431 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140166534-140271424)x3 | copy number gain | not provided [RCV000745208] | Chr5:140166534..140271424 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176243-140264271)x3 | copy number gain | not provided [RCV000745209] | Chr5:140176243..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176840-140264271)x3 | copy number gain | not provided [RCV000745210] | Chr5:140176840..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140176842-140264271)x3 | copy number gain | not provided [RCV000745211] | Chr5:140176842..140264271 [GRCh37] Chr5:5q31.3 |
benign |
GRCh37/hg19 5q31.3(chr5:140181359-140264271)x3 | copy number gain | not provided [RCV000745212] | Chr5:140181359..140264271 [GRCh37] Chr5:5q31.3 |
benign |
NM_018899.6(PCDHAC2):c.2841C>A (p.Ile947=) | single nucleotide variant | not provided [RCV000881803] | Chr5:141009754 [GRCh38] Chr5:140389339 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_031857.2(PCDHA9):c.2406C>G (p.Pro802=) | single nucleotide variant | not provided [RCV000922554] | Chr5:140978960 [GRCh38] Chr5:140358545 [GRCh37] Chr5:5q31.3 |
likely benign |
Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_018903.4(PCDHA12):c.2492C>G (p.Pro831Arg) | single nucleotide variant | not provided [RCV000950135] | Chr5:140982540 [GRCh38] Chr5:140362125 [GRCh37] Chr5:5q31.3 |
benign|likely benign |
NM_018904.3(PCDHA13):c.1255T>G (p.Ser419Ala) | single nucleotide variant | Inborn genetic diseases [RCV003288832] | Chr5:140883523 [GRCh38] Chr5:140263108 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.1331G>A (p.Gly444Glu) | single nucleotide variant | Inborn genetic diseases [RCV003288833] | Chr5:140883599 [GRCh38] Chr5:140263184 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.1208T>A (p.Leu403Gln) | single nucleotide variant | Inborn genetic diseases [RCV003272794] | Chr5:140928100 [GRCh38] Chr5:140307685 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1439A>G (p.Gln480Arg) | single nucleotide variant | Inborn genetic diseases [RCV003288834] | Chr5:140883707 [GRCh38] Chr5:140263292 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.804T>A (p.Asp268Glu) | single nucleotide variant | Inborn genetic diseases [RCV003272781] | Chr5:140883072 [GRCh38] Chr5:140262657 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1459G>A (p.Val487Ile) | single nucleotide variant | Inborn genetic diseases [RCV003275468] | Chr5:140928351 [GRCh38] Chr5:140307936 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2613C>T (p.Tyr871=) | single nucleotide variant | not provided [RCV000879250] | Chr5:141009697 [GRCh38] Chr5:140389282 [GRCh37] Chr5:5q31.3 |
likely benign |
NC_000005.9:g.(?_136633338)_(140998481_?)dup | duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] | Chr5:136633338..140998481 [GRCh37] Chr5:5q31.2-31.3 |
uncertain significance |
NM_018907.4(PCDHA4):c.2499T>A (p.Asp833Glu) | single nucleotide variant | not provided [RCV001454211] | Chr5:140982529 [GRCh38] Chr5:140362114 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 | copy number loss | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202] | Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3 |
pathogenic |
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) | copy number gain | not specified [RCV002053526] | Chr5:130125085..157574910 [GRCh37] Chr5:5q23.3-33.3 |
pathogenic |
NM_018904.3(PCDHA13):c.1444G>C (p.Ala482Pro) | single nucleotide variant | Inborn genetic diseases [RCV003276367] | Chr5:140883712 [GRCh38] Chr5:140263297 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1466T>G (p.Leu489Arg) | single nucleotide variant | Inborn genetic diseases [RCV003255730] | Chr5:140883734 [GRCh38] Chr5:140263319 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1234G>A (p.Ala412Thr) | single nucleotide variant | Inborn genetic diseases [RCV003302402] | Chr5:140883502 [GRCh38] Chr5:140263087 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1318A>C (p.Ser440Arg) | single nucleotide variant | Inborn genetic diseases [RCV003302404] | Chr5:140883586 [GRCh38] Chr5:140263171 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 | copy number gain | not provided [RCV002474614] | Chr5:140082762..140773954 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.320A>G (p.Glu107Gly) | single nucleotide variant | Inborn genetic diseases [RCV002731836] | Chr5:140882588 [GRCh38] Chr5:140262173 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.881A>G (p.Gln294Arg) | single nucleotide variant | Inborn genetic diseases [RCV002817987] | Chr5:140927773 [GRCh38] Chr5:140307358 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.2224A>G (p.Ile742Val) | single nucleotide variant | Inborn genetic diseases [RCV002906686] | Chr5:140929116 [GRCh38] Chr5:140308701 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.143C>A (p.Ala48Asp) | single nucleotide variant | Inborn genetic diseases [RCV002840464] | Chr5:140927035 [GRCh38] Chr5:140306620 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1904T>C (p.Val635Ala) | single nucleotide variant | Inborn genetic diseases [RCV002794292] | Chr5:140968670 [GRCh38] Chr5:140348255 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.106G>T (p.Val36Leu) | single nucleotide variant | Inborn genetic diseases [RCV002883791] | Chr5:140926998 [GRCh38] Chr5:140306583 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2111T>C (p.Ile704Thr) | single nucleotide variant | Inborn genetic diseases [RCV002728588] | Chr5:140968877 [GRCh38] Chr5:140348462 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1387A>G (p.Asn463Asp) | single nucleotide variant | Inborn genetic diseases [RCV002688427] | Chr5:140968153 [GRCh38] Chr5:140347738 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2038G>T (p.Val680Leu) | single nucleotide variant | Inborn genetic diseases [RCV002990311] | Chr5:140968804 [GRCh38] Chr5:140348389 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1645G>A (p.Val549Met) | single nucleotide variant | Inborn genetic diseases [RCV002733033] | Chr5:140883913 [GRCh38] Chr5:140263498 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.682A>G (p.Thr228Ala) | single nucleotide variant | Inborn genetic diseases [RCV002732033] | Chr5:140967448 [GRCh38] Chr5:140347033 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1522G>A (p.Val508Met) | single nucleotide variant | Inborn genetic diseases [RCV002864592] | Chr5:140883790 [GRCh38] Chr5:140263375 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.811C>T (p.Pro271Ser) | single nucleotide variant | Inborn genetic diseases [RCV002737973] | Chr5:140967577 [GRCh38] Chr5:140347162 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1682A>T (p.Asn561Ile) | single nucleotide variant | Inborn genetic diseases [RCV002661857] | Chr5:140883950 [GRCh38] Chr5:140263535 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1204C>A (p.Pro402Thr) | single nucleotide variant | Inborn genetic diseases [RCV002849180] | Chr5:140928096 [GRCh38] Chr5:140307681 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.827C>A (p.Thr276Lys) | single nucleotide variant | Inborn genetic diseases [RCV002692321] | Chr5:140927719 [GRCh38] Chr5:140307304 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.452A>G (p.Asp151Gly) | single nucleotide variant | Inborn genetic diseases [RCV002977034] | Chr5:140927344 [GRCh38] Chr5:140306929 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.778C>A (p.Pro260Thr) | single nucleotide variant | Inborn genetic diseases [RCV002848739] | Chr5:140927670 [GRCh38] Chr5:140307255 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.14G>T (p.Trp5Leu) | single nucleotide variant | Inborn genetic diseases [RCV002738824] | Chr5:140882282 [GRCh38] Chr5:140261867 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.540C>G (p.Ser180Arg) | single nucleotide variant | Inborn genetic diseases [RCV002738883] | Chr5:140927432 [GRCh38] Chr5:140307017 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2155A>G (p.Thr719Ala) | single nucleotide variant | Inborn genetic diseases [RCV002737874] | Chr5:140884423 [GRCh38] Chr5:140264008 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1193G>A (p.Arg398Gln) | single nucleotide variant | Inborn genetic diseases [RCV002737088] | Chr5:140967959 [GRCh38] Chr5:140347544 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.4C>G (p.Leu2Val) | single nucleotide variant | Inborn genetic diseases [RCV002869499] | Chr5:140882272 [GRCh38] Chr5:140261857 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.2212G>T (p.Gly738Cys) | single nucleotide variant | Inborn genetic diseases [RCV002925632] | Chr5:140968978 [GRCh38] Chr5:140348563 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1292G>A (p.Arg431Gln) | single nucleotide variant | Inborn genetic diseases [RCV002694026] | Chr5:140968058 [GRCh38] Chr5:140347643 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1517C>T (p.Ala506Val) | single nucleotide variant | Inborn genetic diseases [RCV002712475] | Chr5:140928409 [GRCh38] Chr5:140307994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1195A>C (p.Lys399Gln) | single nucleotide variant | Inborn genetic diseases [RCV002830954] | Chr5:140967961 [GRCh38] Chr5:140347546 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.757G>A (p.Glu253Lys) | single nucleotide variant | Inborn genetic diseases [RCV002916491] | Chr5:140883025 [GRCh38] Chr5:140262610 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1222A>C (p.Ile408Leu) | single nucleotide variant | Inborn genetic diseases [RCV002699601] | Chr5:140928114 [GRCh38] Chr5:140307699 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2252G>A (p.Arg751Lys) | single nucleotide variant | Inborn genetic diseases [RCV002984541] | Chr5:140969018 [GRCh38] Chr5:140348603 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.535G>A (p.Gly179Ser) | single nucleotide variant | Inborn genetic diseases [RCV002763242] | Chr5:140927427 [GRCh38] Chr5:140307012 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2043C>G (p.Asn681Lys) | single nucleotide variant | Inborn genetic diseases [RCV002874674] | Chr5:140928935 [GRCh38] Chr5:140308520 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1952T>G (p.Val651Gly) | single nucleotide variant | Inborn genetic diseases [RCV002786920] | Chr5:140884220 [GRCh38] Chr5:140263805 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.712A>T (p.Asn238Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002664656] | Chr5:140882980 [GRCh38] Chr5:140262565 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1888G>C (p.Glu630Gln) | single nucleotide variant | Inborn genetic diseases [RCV002787141] | Chr5:140884156 [GRCh38] Chr5:140263741 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.492C>G (p.Ser164Arg) | single nucleotide variant | Inborn genetic diseases [RCV002644598] | Chr5:140927384 [GRCh38] Chr5:140306969 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1406C>A (p.Pro469Gln) | single nucleotide variant | Inborn genetic diseases [RCV002673022] | Chr5:140883674 [GRCh38] Chr5:140263259 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1748T>C (p.Val583Ala) | single nucleotide variant | Inborn genetic diseases [RCV002813122] | Chr5:140928640 [GRCh38] Chr5:140308225 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1000T>C (p.Cys334Arg) | single nucleotide variant | Inborn genetic diseases [RCV002939472] | Chr5:140883268 [GRCh38] Chr5:140262853 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.762C>G (p.Asn254Lys) | single nucleotide variant | Inborn genetic diseases [RCV002717945] | Chr5:140883030 [GRCh38] Chr5:140262615 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1649A>G (p.Asp550Gly) | single nucleotide variant | Inborn genetic diseases [RCV002896573] | Chr5:140928541 [GRCh38] Chr5:140308126 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.973A>G (p.Lys325Glu) | single nucleotide variant | Inborn genetic diseases [RCV002670640] | Chr5:140927865 [GRCh38] Chr5:140307450 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2192C>G (p.Ala731Gly) | single nucleotide variant | Inborn genetic diseases [RCV002808734] | Chr5:140884460 [GRCh38] Chr5:140264045 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.187G>C (p.Glu63Gln) | single nucleotide variant | Inborn genetic diseases [RCV002714276] | Chr5:140927079 [GRCh38] Chr5:140306664 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1292G>A (p.Gly431Asp) | single nucleotide variant | Inborn genetic diseases [RCV002832403] | Chr5:140883560 [GRCh38] Chr5:140263145 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2236A>G (p.Thr746Ala) | single nucleotide variant | Inborn genetic diseases [RCV002672346] | Chr5:140929128 [GRCh38] Chr5:140308713 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.406G>A (p.Val136Met) | single nucleotide variant | Inborn genetic diseases [RCV002832459] | Chr5:140967172 [GRCh38] Chr5:140346757 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1067T>G (p.Val356Gly) | single nucleotide variant | Inborn genetic diseases [RCV002940412] | Chr5:140967833 [GRCh38] Chr5:140347418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1396G>A (p.Glu466Lys) | single nucleotide variant | Inborn genetic diseases [RCV002941679] | Chr5:140883664 [GRCh38] Chr5:140263249 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1589G>C (p.Ser530Thr) | single nucleotide variant | Inborn genetic diseases [RCV002940783] | Chr5:140968355 [GRCh38] Chr5:140347940 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.941A>G (p.Asp314Gly) | single nucleotide variant | Inborn genetic diseases [RCV002747808] | Chr5:140927833 [GRCh38] Chr5:140307418 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1165G>T (p.Ala389Ser) | single nucleotide variant | Inborn genetic diseases [RCV002944880] | Chr5:140928057 [GRCh38] Chr5:140307642 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1349C>T (p.Thr450Ile) | single nucleotide variant | Inborn genetic diseases [RCV002679517] | Chr5:140968115 [GRCh38] Chr5:140347700 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1546A>C (p.Lys516Gln) | single nucleotide variant | Inborn genetic diseases [RCV003255731] | Chr5:140883814 [GRCh38] Chr5:140263399 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1999T>A (p.Phe667Ile) | single nucleotide variant | Inborn genetic diseases [RCV003220292] | Chr5:140928891 [GRCh38] Chr5:140308476 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.776A>G (p.Gln259Arg) | single nucleotide variant | Inborn genetic diseases [RCV003211443] | Chr5:140967542 [GRCh38] Chr5:140347127 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.517A>G (p.Met173Val) | single nucleotide variant | Inborn genetic diseases [RCV003212950] | Chr5:140927409 [GRCh38] Chr5:140306994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.2018C>G (p.Pro673Arg) | single nucleotide variant | Inborn genetic diseases [RCV003200951] | Chr5:140928910 [GRCh38] Chr5:140308495 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1277C>G (p.Thr426Ser) | single nucleotide variant | Inborn genetic diseases [RCV003302403] | Chr5:140883545 [GRCh38] Chr5:140263130 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1361C>T (p.Ala454Val) | single nucleotide variant | Inborn genetic diseases [RCV003302405] | Chr5:140883629 [GRCh38] Chr5:140263214 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1440G>C (p.Gln480His) | single nucleotide variant | Inborn genetic diseases [RCV003302407] | Chr5:140883708 [GRCh38] Chr5:140263293 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.151G>A (p.Asp51Asn) | single nucleotide variant | Inborn genetic diseases [RCV003210264] | Chr5:140882419 [GRCh38] Chr5:140262004 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2090A>G (p.Asn697Ser) | single nucleotide variant | Inborn genetic diseases [RCV003197913] | Chr5:140884358 [GRCh38] Chr5:140263943 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1123G>C (p.Val375Leu) | single nucleotide variant | Inborn genetic diseases [RCV003205958] | Chr5:140928015 [GRCh38] Chr5:140307600 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1189C>A (p.Leu397Met) | single nucleotide variant | Inborn genetic diseases [RCV003217344] | Chr5:140883457 [GRCh38] Chr5:140263042 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1190T>G (p.Leu397Arg) | single nucleotide variant | Inborn genetic diseases [RCV003217345] | Chr5:140883458 [GRCh38] Chr5:140263043 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1405C>G (p.Pro469Ala) | single nucleotide variant | Inborn genetic diseases [RCV003302406] | Chr5:140883673 [GRCh38] Chr5:140263258 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1067G>A (p.Gly356Asp) | single nucleotide variant | Inborn genetic diseases [RCV003343417] | Chr5:140927959 [GRCh38] Chr5:140307544 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2197C>T (p.Arg733Cys) | single nucleotide variant | Inborn genetic diseases [RCV003344465] | Chr5:140968963 [GRCh38] Chr5:140348548 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1915C>T (p.Arg639Trp) | single nucleotide variant | Inborn genetic diseases [RCV003359670] | Chr5:140928807 [GRCh38] Chr5:140308392 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.2207C>A (p.Ala736Glu) | single nucleotide variant | Inborn genetic diseases [RCV003381089] | Chr5:140968973 [GRCh38] Chr5:140348558 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.604G>A (p.Val202Met) | single nucleotide variant | Inborn genetic diseases [RCV003371568] | Chr5:140927496 [GRCh38] Chr5:140307081 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.286T>G (p.Cys96Gly) | single nucleotide variant | Inborn genetic diseases [RCV003376152] | Chr5:140882554 [GRCh38] Chr5:140262139 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.856G>A (p.Val286Met) | single nucleotide variant | Inborn genetic diseases [RCV003347967] | Chr5:140927748 [GRCh38] Chr5:140307333 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1010T>C (p.Leu337Ser) | single nucleotide variant | Inborn genetic diseases [RCV003364396] | Chr5:140883278 [GRCh38] Chr5:140262863 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.140G>C (p.Arg47Pro) | single nucleotide variant | Inborn genetic diseases [RCV003366972] | Chr5:140882408 [GRCh38] Chr5:140261993 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1582A>G (p.Ser528Gly) | single nucleotide variant | Inborn genetic diseases [RCV003348290] | Chr5:140968348 [GRCh38] Chr5:140347933 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.719C>T (p.Pro240Leu) | single nucleotide variant | Inborn genetic diseases [RCV003355131] | Chr5:140882987 [GRCh38] Chr5:140262572 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1195A>T (p.Ile399Phe) | single nucleotide variant | Inborn genetic diseases [RCV003369708] | Chr5:140928087 [GRCh38] Chr5:140307672 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1444G>A (p.Ala482Thr) | single nucleotide variant | Inborn genetic diseases [RCV003353855] | Chr5:140883712 [GRCh38] Chr5:140263297 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.849G>T (p.Arg283Ser) | single nucleotide variant | Inborn genetic diseases [RCV003372425] | Chr5:140883117 [GRCh38] Chr5:140262702 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2134G>T (p.Val712Leu) | single nucleotide variant | Inborn genetic diseases [RCV003373137] | Chr5:140884402 [GRCh38] Chr5:140263987 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.989T>C (p.Val330Ala) | single nucleotide variant | Inborn genetic diseases [RCV003347858] | Chr5:140927881 [GRCh38] Chr5:140307466 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.182C>A (p.Pro61Gln) | single nucleotide variant | Inborn genetic diseases [RCV003383515] | Chr5:140882450 [GRCh38] Chr5:140262035 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.2141C>G (p.Thr714Arg) | single nucleotide variant | Inborn genetic diseases [RCV003383516] | Chr5:140884409 [GRCh38] Chr5:140263994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1735T>G (p.Leu579Val) | single nucleotide variant | Inborn genetic diseases [RCV003369325] | Chr5:140928627 [GRCh38] Chr5:140308212 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018898.5(PCDHAC1):c.1771G>T (p.Gly591Cys) | single nucleotide variant | Inborn genetic diseases [RCV003386675] | Chr5:140928663 [GRCh38] Chr5:140308248 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.850C>G (p.Pro284Ala) | single nucleotide variant | Inborn genetic diseases [RCV003369648] | Chr5:140883118 [GRCh38] Chr5:140262703 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018904.3(PCDHA13):c.1955A>G (p.Lys652Arg) | single nucleotide variant | Inborn genetic diseases [RCV003371965] | Chr5:140884223 [GRCh38] Chr5:140263808 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018899.6(PCDHAC2):c.1911G>A (p.Leu637=) | single nucleotide variant | not provided [RCV003457448] | Chr5:140968677 [GRCh38] Chr5:140348262 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2164C>A (p.Arg722=) | single nucleotide variant | not provided [RCV003428629] | Chr5:140884432 [GRCh38] Chr5:140264017 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.2202G>A (p.Pro734=) | single nucleotide variant | not provided [RCV003429818] | Chr5:140884470 [GRCh38] Chr5:140264055 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.1161C>G (p.Leu387=) | single nucleotide variant | not provided [RCV003429820] | Chr5:140967927 [GRCh38] Chr5:140347512 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018907.4(PCDHA4):c.2385+74492C>A | single nucleotide variant | not provided [RCV003429817] | Chr5:140884064 [GRCh38] Chr5:140263649 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.2460G>A (p.Ser820=) | single nucleotide variant | not provided [RCV003429821] | Chr5:140969226 [GRCh38] Chr5:140348811 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.1428G>C (p.Thr476=) | single nucleotide variant | not provided [RCV003429815] | Chr5:140883696 [GRCh38] Chr5:140263281 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018899.6(PCDHAC2):c.480G>T (p.Ser160=) | single nucleotide variant | not provided [RCV003428630] | Chr5:140967246 [GRCh38] Chr5:140346831 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018902.5(PCDHA11):c.2391+12410G>A | single nucleotide variant | not provided [RCV003429816] | Chr5:140883904 [GRCh38] Chr5:140263489 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018898.5(PCDHAC1):c.1671T>C (p.Phe557=) | single nucleotide variant | not provided [RCV003429819] | Chr5:140928563 [GRCh38] Chr5:140308148 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018904.3(PCDHA13):c.292C>A (p.Arg98=) | single nucleotide variant | not provided [RCV003428628] | Chr5:140882560 [GRCh38] Chr5:140262145 [GRCh37] Chr5:5q31.3 |
likely benign |
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. |
D5S658 |
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RH91795 |
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RH122893 |
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RH118816 |
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D5S1683E |
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SHGC-150174 |
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bac5366T |
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bac5373T |
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PMC311048P1 |
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PCDHA4_1031 |
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A004B11 |
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RH15971 |
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IB766 |
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WI-19540 |
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RH65516 |
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PCDHAC1__5835 |
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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 | ||||||||||||||||||
Low | 184 | 1 | 177 | 31 | 10 | 24 | 113 | 183 | 830 | 19 | 428 | 220 | 10 | 69 | 25 | |||
Below cutoff | 1673 | 1097 | 1185 | 325 | 478 | 184 | 2600 | 1116 | 2678 | 201 | 642 | 1194 | 144 | 1 | 1044 | 1544 | 2 | 1 |
RefSeq Transcripts | NG_000016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NG_050674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NG_050675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NG_050677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_031865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB208924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC005609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC008468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC010223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000289272 ⟹ ENSP00000289272 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000409494 ⟹ ENSP00000386821 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000617769 ⟹ ENSP00000479167 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_018904 ⟹ NP_061727 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_031865 ⟹ NP_114071 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_061727 | (Get FASTA) | NCBI Sequence Viewer |
NP_114071 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC34314 | (Get FASTA) | NCBI Sequence Viewer |
AAD43703 | (Get FASTA) | NCBI Sequence Viewer | |
AAD43739 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92161 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61986 | (Get FASTA) | NCBI Sequence Viewer | |
EAW62008 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000289272 | ||
ENSP00000289272.2 | |||
ENSP00000386821.1 | |||
ENSP00000479167 | |||
ENSP00000479167.1 | |||
ENSP00000517171.1 | |||
ENSP00000517173.1 | |||
GenBank Protein | Q9Y5I0 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061727 ⟸ NM_018904 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | O75277 (UniProtKB/Swiss-Prot), Q9Y5I0 (UniProtKB/Swiss-Prot), C9JA99 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_114071 ⟸ NM_031865 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | C9JA99 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000289272 ⟸ ENST00000289272 |
RefSeq Acc Id: | ENSP00000479167 ⟸ ENST00000617769 |
RefSeq Acc Id: | ENSP00000386821 ⟸ ENST00000409494 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y5I0-F1-model_v2 | AlphaFold | Q9Y5I0 | 1-950 | view protein structure |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:8667 | AgrOrtholog |
COSMIC | PCDHA13 | COSMIC |
Ensembl Genes | ENSG00000239389 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSG00000291666 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000289272 | ENTREZGENE |
ENST00000289272.3 | UniProtKB/Swiss-Prot | |
ENST00000409494.5 | UniProtKB/TrEMBL | |
ENST00000617769 | ENTREZGENE | |
ENST00000617769.1 | UniProtKB/Swiss-Prot | |
ENST00000708325.1 | UniProtKB/Swiss-Prot | |
ENST00000708327.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Cadherins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000239389 | GTEx |
ENSG00000291666 | GTEx | |
HGNC ID | HGNC:8667 | ENTREZGENE |
Human Proteome Map | PCDHA13 | Human Proteome Map |
InterPro | Cadherin-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherin-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_CBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:56136 | UniProtKB/Swiss-Prot |
NCBI Gene | 56136 | ENTREZGENE |
OMIM | 606319 | OMIM |
PANTHER | CADHERIN-87A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTOCADHERIN ALPHA-13 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cadherin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Cadherin_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cadherin_tail | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA33013 | PharmGKB |
PRINTS | CADHERIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | CADHERIN_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CADHERIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | SM00112 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF49313 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | C9JA99 | ENTREZGENE, UniProtKB/TrEMBL |
O75277 | ENTREZGENE | |
PCDAD_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | O75277 | UniProtKB/Swiss-Prot |