Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15818620 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:15818620 | |
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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:10716726 | PMID:10817752 | PMID:10835267 | PMID:11230163 | PMID:21873635 | PMID:24081945 | PMID:27485611 | PMID:33961781 | PMID:36215168 |
PCDHGB6 (Homo sapiens - human) |
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Pcdhgb6 (Mus musculus - house mouse) |
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Pcdhgb6 (Rattus norvegicus - Norway rat) |
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Variants in PCDHGB6
259 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_003735.2(PCDHGA12):c.1619C>T (p.Pro540Leu) | single nucleotide variant | Malignant melanoma [RCV000061164] | Chr5:141432378 [GRCh38] Chr5:140811945 [GRCh37] Chr5:140792129 [NCBI36] Chr5:5q31.3 |
not provided |
NM_032402.1(PCDHGC3):c.1630A>C (p.Thr544Pro) | single nucleotide variant | Malignant melanoma [RCV000061165] | Chr5:141477746 [GRCh38] Chr5:140857313 [GRCh37] Chr5:140837497 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018913.2(PCDHGA10):c.1863C>T (p.Phe621=) | single nucleotide variant | Malignant melanoma [RCV000066748] | Chr5:141415038 [GRCh38] Chr5:140794605 [GRCh37] Chr5:140774789 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018929.2(PCDHGC5):c.2080C>T (p.Leu694Phe) | single nucleotide variant | Malignant melanoma [RCV000066749] | Chr5:141491320 [GRCh38] Chr5:140870887 [GRCh37] Chr5:140851071 [NCBI36] Chr5:5q31.3 |
not provided |
NM_018928.3(PCDHGC4):c.462G>A (p.Leu154=) | single nucleotide variant | not provided [RCV000122561] | Chr5:141485635 [GRCh38] Chr5:140865202 [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 5q31.3-32(chr5:141089988-149530678)x3 | copy number gain | See cases [RCV000139504] | Chr5:141089988..149530678 [GRCh38] Chr5:140469572..148910241 [GRCh37] Chr5:140449756..148890434 [NCBI36] Chr5:5q31.3-32 |
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 |
NM_003735.3(PCDHGA12):c.1448A>G (p.Glu483Gly) | single nucleotide variant | Inborn genetic diseases [RCV003268387] | Chr5:141432207 [GRCh38] Chr5:140811774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.262G>A (p.Asp88Asn) | single nucleotide variant | Inborn genetic diseases [RCV003266765] | Chr5:141418121 [GRCh38] Chr5:140797688 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1598A>G (p.Gln533Arg) | single nucleotide variant | Inborn genetic diseases [RCV003268656] | Chr5:141419457 [GRCh38] Chr5:140799024 [GRCh37] Chr5:5q31.3 |
uncertain significance |
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 5q31.3(chr5:140800486-140807631)x3 | copy number gain | See cases [RCV000446668] | Chr5:140800486..140807631 [GRCh37] Chr5:5q31.3 |
uncertain significance |
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 |
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_018929.3(PCDHGC5):c.1610G>A (p.Arg537Gln) | single nucleotide variant | Inborn genetic diseases [RCV003296480] | Chr5:141490850 [GRCh38] Chr5:140870417 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.27C>A (p.Asp9Glu) | single nucleotide variant | Inborn genetic diseases [RCV003273861] | Chr5:141421254 [GRCh38] Chr5:140800821 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.2041C>G (p.Pro681Ala) | single nucleotide variant | Inborn genetic diseases [RCV003276469] | Chr5:141432800 [GRCh38] Chr5:140812367 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1357G>C (p.Asp453His) | single nucleotide variant | Inborn genetic diseases [RCV003258593] | Chr5:141409559 [GRCh38] Chr5:140789126 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002588.4(PCDHGC3):c.2236G>T (p.Ala746Ser) | single nucleotide variant | Inborn genetic diseases [RCV003259790] | Chr5:141478352 [GRCh38] Chr5:140857919 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1585C>G (p.Gln529Glu) | single nucleotide variant | Inborn genetic diseases [RCV003251459] | Chr5:141432344 [GRCh38] Chr5:140811911 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.191T>C (p.Leu64Pro) | single nucleotide variant | Inborn genetic diseases [RCV003242204] | Chr5:141485364 [GRCh38] Chr5:140864931 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.970G>A (p.Ala324Thr) | single nucleotide variant | Inborn genetic diseases [RCV003291367] | Chr5:141477086 [GRCh38] Chr5:140856653 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.2084C>T (p.Ala695Val) | single nucleotide variant | Inborn genetic diseases [RCV003272381] | Chr5:141410286 [GRCh38] Chr5:140789853 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.955A>G (p.Ile319Val) | single nucleotide variant | Inborn genetic diseases [RCV003288149] | Chr5:141418814 [GRCh38] Chr5:140798381 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018927.4(PCDHGB7):c.1611G>C (p.Gln537His) | single nucleotide variant | Inborn genetic diseases [RCV003302411] | Chr5:141419470 [GRCh38] Chr5:140799037 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1627A>C (p.Ser543Arg) | single nucleotide variant | Inborn genetic diseases [RCV003302412] | Chr5:141419486 [GRCh38] Chr5:140799053 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.194T>C (p.Val65Ala) | single nucleotide variant | Inborn genetic diseases [RCV003287441] | Chr5:141421421 [GRCh38] Chr5:140800988 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1706G>A (p.Arg569Gln) | single nucleotide variant | Inborn genetic diseases [RCV003281239] | Chr5:141486879 [GRCh38] Chr5:140866446 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.412C>G (p.Leu138Val) | single nucleotide variant | Inborn genetic diseases [RCV003256689] | Chr5:141485585 [GRCh38] Chr5:140865152 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1436C>A (p.Pro479His) | single nucleotide variant | Inborn genetic diseases [RCV003267182] | Chr5:141432195 [GRCh38] Chr5:140811762 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.655G>A (p.Asp219Asn) | single nucleotide variant | Inborn genetic diseases [RCV003277945] | Chr5:141418514 [GRCh38] Chr5:140798081 [GRCh37] Chr5:5q31.3 |
uncertain significance |
GRCh37/hg19 5q31.3(chr5:140676272-140929172)x3 | copy number gain | See cases [RCV000512526] | Chr5:140676272..140929172 [GRCh37] Chr5:5q31.3 |
likely benign |
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 |
NM_018913.3(PCDHGA10):c.2188C>T (p.Gln730Ter) | single nucleotide variant | not provided [RCV000963848] | Chr5:141415363 [GRCh38] Chr5:140794930 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018913.3(PCDHGA10):c.651C>T (p.Thr217=) | single nucleotide variant | not provided [RCV000962128] | Chr5:141413826 [GRCh38] Chr5:140793393 [GRCh37] Chr5:5q31.3 |
benign |
Single allele | deletion | Neurodevelopmental disorder [RCV000787436] | Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
NM_018913.3(PCDHGA10):c.2673C>T (p.His891=) | single nucleotide variant | not provided [RCV000928114] | Chr5:141511035 [GRCh38] Chr5:140890602 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018929.3(PCDHGC5):c.2121C>A (p.Val707=) | single nucleotide variant | not provided [RCV000903600] | Chr5:141491361 [GRCh38] Chr5:140870928 [GRCh37] Chr5:5q31.3 |
benign |
NM_018913.3(PCDHGA10):c.251G>T (p.Arg84Leu) | single nucleotide variant | not provided [RCV000894333] | Chr5:141413426 [GRCh38] Chr5:140792993 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002588.4(PCDHGC3):c.2178A>G (p.Leu726=) | single nucleotide variant | not provided [RCV000963442] | Chr5:141478294 [GRCh38] Chr5:140857861 [GRCh37] Chr5:5q31.3 |
benign |
NM_018927.4(PCDHGB7):c.2116G>A (p.Ala706Thr) | single nucleotide variant | Inborn genetic diseases [RCV003244116] | Chr5:141419975 [GRCh38] Chr5:140799542 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1579A>G (p.Thr527Ala) | single nucleotide variant | Inborn genetic diseases [RCV003288837] | Chr5:141419438 [GRCh38] Chr5:140799005 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018913.3(PCDHGA10):c.2640C>T (p.Ser880=) | single nucleotide variant | not provided [RCV000914990] | Chr5:141511002 [GRCh38] Chr5:140890569 [GRCh37] Chr5:5q31.3 |
likely benign |
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 | copy number gain | not provided [RCV000848228] | Chr5:140424333..148985999 [GRCh37] Chr5:5q31.3-32 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1091A>C (p.Glu364Ala) | single nucleotide variant | Inborn genetic diseases [RCV003246193] | Chr5:141486264 [GRCh38] Chr5:140865831 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.509G>A (p.Ser170Asn) | single nucleotide variant | Inborn genetic diseases [RCV003249258] | Chr5:141421736 [GRCh38] Chr5:140801303 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.890C>T (p.Pro297Leu) | single nucleotide variant | Inborn genetic diseases [RCV003291368] | Chr5:141486063 [GRCh38] Chr5:140865630 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2131G>A (p.Val711Met) | single nucleotide variant | Inborn genetic diseases [RCV003239662] | Chr5:141423358 [GRCh38] Chr5:140802925 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1000A>G (p.Thr334Ala) | single nucleotide variant | Inborn genetic diseases [RCV003241653] | Chr5:141414175 [GRCh38] Chr5:140793742 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1696C>T (p.Pro566Ser) | single nucleotide variant | Inborn genetic diseases [RCV003274734] | Chr5:141422923 [GRCh38] Chr5:140802490 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.178A>T (p.Ser60Cys) | single nucleotide variant | Inborn genetic diseases [RCV003240393] | Chr5:141476294 [GRCh38] Chr5:140855861 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.714C>G (p.Asn238Lys) | single nucleotide variant | Inborn genetic diseases [RCV003276009] | Chr5:141431473 [GRCh38] Chr5:140811040 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.199C>A (p.Arg67=) | single nucleotide variant | not provided [RCV000888699] | Chr5:141408401 [GRCh38] Chr5:140787968 [GRCh37] Chr5:5q31.3 |
benign |
NM_002588.4(PCDHGC3):c.2646A>G (p.Gly882=) | single nucleotide variant | not provided [RCV000897354] | Chr5:141511014 [GRCh38] Chr5:140890581 [GRCh37] Chr5:5q31.3 |
benign |
NM_018913.3(PCDHGA10):c.1834C>T (p.Leu612=) | single nucleotide variant | not provided [RCV000975082] | Chr5:141415009 [GRCh38] Chr5:140794576 [GRCh37] Chr5:5q31.3 |
benign |
NM_018929.3(PCDHGC5):c.1965A>G (p.Ser655=) | single nucleotide variant | not provided [RCV000975083] | Chr5:141491205 [GRCh38] Chr5:140870772 [GRCh37] Chr5:5q31.3 |
benign |
NM_018913.3(PCDHGA10):c.1932A>G (p.Gln644=) | single nucleotide variant | not provided [RCV000956313] | Chr5:141415107 [GRCh38] Chr5:140794674 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018929.3(PCDHGC5):c.1173G>A (p.Pro391=) | single nucleotide variant | not provided [RCV000956314] | Chr5:141490413 [GRCh38] Chr5:140869980 [GRCh37] Chr5:5q31.3 |
benign |
NM_018929.3(PCDHGC5):c.1407G>A (p.Pro469=) | single nucleotide variant | not provided [RCV000956315] | Chr5:141490647 [GRCh38] Chr5:140870214 [GRCh37] Chr5:5q31.3 |
benign |
NM_018929.3(PCDHGC5):c.2013T>C (p.Pro671=) | single nucleotide variant | not provided [RCV000956316] | Chr5:141491253 [GRCh38] Chr5:140870820 [GRCh37] Chr5:5q31.3 |
benign |
NM_018913.3(PCDHGA10):c.32C>G (p.Ser11Ter) | single nucleotide variant | not provided [RCV000912014] | Chr5:141413207 [GRCh38] Chr5:140792774 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs) | deletion | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002465045] | Chr5:141485851..141485930 [GRCh38] Chr5:140865418..140865497 [GRCh37] Chr5:5q31.3 |
likely pathogenic |
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_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter) | duplication | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002259562] | Chr5:141487311..141487312 [GRCh38] Chr5:140866878..140866879 [GRCh37] Chr5:5q31.3 |
likely 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_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter) | single nucleotide variant | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248464] | Chr5:141486416 [GRCh38] Chr5:140865983 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_018914.3(PCDHGA11):c.1046C>A (p.Thr349Asn) | single nucleotide variant | Inborn genetic diseases [RCV003295056] | Chr5:141422273 [GRCh38] Chr5:140801840 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu) | single nucleotide variant | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248460] | Chr5:141486622 [GRCh38] Chr5:140866189 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter) | single nucleotide variant | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248461] | Chr5:141485291 [GRCh38] Chr5:140864858 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_018928.3(PCDHGC4):c.1463C>T (p.Ala488Val) | single nucleotide variant | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248462] | Chr5:141486636 [GRCh38] Chr5:140866203 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_018928.3(PCDHGC4):c.324del (p.Phe108fs) | deletion | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] | Chr5:141485495 [GRCh38] Chr5:140865062 [GRCh37] Chr5:5q31.3 |
pathogenic |
NM_018913.3(PCDHGA10):c.2020C>G (p.Gln674Glu) | single nucleotide variant | Inborn genetic diseases [RCV002902832] | Chr5:141415195 [GRCh38] Chr5:140794762 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018927.4(PCDHGB7):c.121C>A (p.Leu41Met) | single nucleotide variant | Inborn genetic diseases [RCV002771913] | Chr5:141417980 [GRCh38] Chr5:140797547 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1781T>A (p.Val594Glu) | single nucleotide variant | Inborn genetic diseases [RCV002774150] | Chr5:141432540 [GRCh38] Chr5:140812107 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1901T>C (p.Val634Ala) | single nucleotide variant | Inborn genetic diseases [RCV002859975] | Chr5:141478017 [GRCh38] Chr5:140857584 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.118C>A (p.Gln40Lys) | single nucleotide variant | Inborn genetic diseases [RCV002753807] | Chr5:141485291 [GRCh38] Chr5:140864858 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.557C>G (p.Pro186Arg) | single nucleotide variant | Inborn genetic diseases [RCV002816968] | Chr5:141418416 [GRCh38] Chr5:140797983 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2266T>A (p.Ser756Thr) | single nucleotide variant | Inborn genetic diseases [RCV002729753] | Chr5:141487439 [GRCh38] Chr5:140867006 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.778G>A (p.Gly260Ser) | single nucleotide variant | Inborn genetic diseases [RCV002685215] | Chr5:141476894 [GRCh38] Chr5:140856461 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1775G>T (p.Arg592Leu) | single nucleotide variant | Inborn genetic diseases [RCV002682879] | Chr5:141477891 [GRCh38] Chr5:140857458 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1903G>T (p.Asp635Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002901981] | Chr5:141423130 [GRCh38] Chr5:140802697 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2110A>G (p.Ile704Val) | single nucleotide variant | Inborn genetic diseases [RCV002969637] | Chr5:141423337 [GRCh38] Chr5:140802904 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018913.3(PCDHGA10):c.2035C>G (p.Leu679Val) | single nucleotide variant | Inborn genetic diseases [RCV002859056] | Chr5:141415210 [GRCh38] Chr5:140794777 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser) | single nucleotide variant | Inborn genetic diseases [RCV002841183] | Chr5:141490771 [GRCh38] Chr5:140870338 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2353A>C (p.Ser785Arg) | single nucleotide variant | Inborn genetic diseases [RCV002969884] | Chr5:141423580 [GRCh38] Chr5:140803147 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.494G>A (p.Gly165Glu) | single nucleotide variant | Inborn genetic diseases [RCV002753651] | Chr5:141476610 [GRCh38] Chr5:140856177 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His) | single nucleotide variant | Inborn genetic diseases [RCV002973702] | Chr5:141511049 [GRCh38] Chr5:140890616 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.989G>A (p.Arg330Gln) | single nucleotide variant | Inborn genetic diseases [RCV002778929] | Chr5:141418848 [GRCh38] Chr5:140798415 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.1405C>T (p.Arg469Cys) | single nucleotide variant | Inborn genetic diseases [RCV003012605] | Chr5:141486578 [GRCh38] Chr5:140866145 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.74G>C (p.Gly25Ala) | single nucleotide variant | Inborn genetic diseases [RCV002688535] | Chr5:141485247 [GRCh38] Chr5:140864814 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.74G>T (p.Arg25Leu) | single nucleotide variant | Inborn genetic diseases [RCV002778656] | Chr5:141421301 [GRCh38] Chr5:140800868 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.56T>A (p.Phe19Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002865473] | Chr5:141485229 [GRCh38] Chr5:140864796 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1289C>T (p.Ala430Val) | single nucleotide variant | Inborn genetic diseases [RCV002772906] | Chr5:141486462 [GRCh38] Chr5:140866029 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.827A>G (p.Asn276Ser) | single nucleotide variant | Inborn genetic diseases [RCV002901821] | Chr5:141476943 [GRCh38] Chr5:140856510 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1883C>T (p.Thr628Met) | single nucleotide variant | Inborn genetic diseases [RCV002688016] | Chr5:141432642 [GRCh38] Chr5:140812209 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1604A>G (p.Gln535Arg) | single nucleotide variant | Inborn genetic diseases [RCV002945187] | Chr5:141414779 [GRCh38] Chr5:140794346 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.391C>T (p.Pro131Ser) | single nucleotide variant | Inborn genetic diseases [RCV002880018] | Chr5:141418250 [GRCh38] Chr5:140797817 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.95G>A (p.Arg32His) | single nucleotide variant | Inborn genetic diseases [RCV002754361] | Chr5:141489335 [GRCh38] Chr5:140868902 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2375G>T (p.Ser792Ile) | single nucleotide variant | Inborn genetic diseases [RCV002907058] | Chr5:141487548 [GRCh38] Chr5:140867115 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys) | single nucleotide variant | Inborn genetic diseases [RCV002902754] | Chr5:141490207 [GRCh38] Chr5:140869774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2336C>T (p.Thr779Met) | single nucleotide variant | Inborn genetic diseases [RCV002753867] | Chr5:141423563 [GRCh38] Chr5:140803130 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.425T>A (p.Leu142Gln) | single nucleotide variant | Inborn genetic diseases [RCV002905933] | Chr5:141413600 [GRCh38] Chr5:140793167 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.832G>C (p.Val278Leu) | single nucleotide variant | Inborn genetic diseases [RCV002751836] | Chr5:141422059 [GRCh38] Chr5:140801626 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.376A>G (p.Ile126Val) | single nucleotide variant | Inborn genetic diseases [RCV002840789] | Chr5:141431135 [GRCh38] Chr5:140810702 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.2293A>C (p.Lys765Gln) | single nucleotide variant | Inborn genetic diseases [RCV002794110] | Chr5:141433052 [GRCh38] Chr5:140812619 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2092G>A (p.Val698Met) | single nucleotide variant | Inborn genetic diseases [RCV002859331] | Chr5:141487265 [GRCh38] Chr5:140866832 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1341C>G (p.Asn447Lys) | single nucleotide variant | Inborn genetic diseases [RCV002729146] | Chr5:141422568 [GRCh38] Chr5:140802135 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly) | single nucleotide variant | Inborn genetic diseases [RCV003013072] | Chr5:141490207 [GRCh38] Chr5:140869774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.389C>T (p.Ala130Val) | single nucleotide variant | Inborn genetic diseases [RCV002778258] | Chr5:141485562 [GRCh38] Chr5:140865129 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.684C>G (p.Ile228Met) | single nucleotide variant | Inborn genetic diseases [RCV002901752] | Chr5:141489924 [GRCh38] Chr5:140869491 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1014G>C (p.Leu338Phe) | single nucleotide variant | Inborn genetic diseases [RCV002837202] | Chr5:141414189 [GRCh38] Chr5:140793756 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.458G>A (p.Arg153His) | single nucleotide variant | Inborn genetic diseases [RCV002749439] | Chr5:141476574 [GRCh38] Chr5:140856141 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1114C>T (p.Arg372Trp) | single nucleotide variant | Inborn genetic diseases [RCV002946234] | Chr5:141409316 [GRCh38] Chr5:140788883 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1603C>A (p.Arg535Ser) | single nucleotide variant | Inborn genetic diseases [RCV002777742] | Chr5:141409805 [GRCh38] Chr5:140789372 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1436C>T (p.Pro479Leu) | single nucleotide variant | Inborn genetic diseases [RCV002762265] | Chr5:141432195 [GRCh38] Chr5:140811762 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1254A>T (p.Lys418Asn) | single nucleotide variant | Inborn genetic diseases [RCV002760039] | Chr5:141486427 [GRCh38] Chr5:140865994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1345G>T (p.Ala449Ser) | single nucleotide variant | Inborn genetic diseases [RCV002868362] | Chr5:141409547 [GRCh38] Chr5:140789114 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.947C>T (p.Thr316Met) | single nucleotide variant | Inborn genetic diseases [RCV002884930] | Chr5:141418806 [GRCh38] Chr5:140798373 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1679G>A (p.Arg560His) | single nucleotide variant | Inborn genetic diseases [RCV002758563] | Chr5:141477795 [GRCh38] Chr5:140857362 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1012C>G (p.Leu338Val) | single nucleotide variant | Inborn genetic diseases [RCV002848553] | Chr5:141431771 [GRCh38] Chr5:140811338 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.710A>G (p.Asn237Ser) | single nucleotide variant | Inborn genetic diseases [RCV002981460] | Chr5:141421937 [GRCh38] Chr5:140801504 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2173G>A (p.Asp725Asn) | single nucleotide variant | Inborn genetic diseases [RCV002911095] | Chr5:141420032 [GRCh38] Chr5:140799599 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.296G>T (p.Gly99Val) | single nucleotide variant | Inborn genetic diseases [RCV002910445] | Chr5:141476412 [GRCh38] Chr5:140855979 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.435C>G (p.Ser145Arg) | single nucleotide variant | Inborn genetic diseases [RCV002977040] | Chr5:141476551 [GRCh38] Chr5:140856118 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1607A>T (p.Asp536Val) | single nucleotide variant | Inborn genetic diseases [RCV002845512] | Chr5:141432366 [GRCh38] Chr5:140811933 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1522T>A (p.Tyr508Asn) | single nucleotide variant | Inborn genetic diseases [RCV002661263] | Chr5:141414697 [GRCh38] Chr5:140794264 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1132G>A (p.Glu378Lys) | single nucleotide variant | Inborn genetic diseases [RCV002951942] | Chr5:141431891 [GRCh38] Chr5:140811458 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His) | single nucleotide variant | Inborn genetic diseases [RCV002659935] | Chr5:141489593 [GRCh38] Chr5:140869160 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp) | single nucleotide variant | Inborn genetic diseases [RCV002868150] | Chr5:141491591 [GRCh38] Chr5:140871158 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr) | single nucleotide variant | Inborn genetic diseases [RCV002797409] | Chr5:141491632 [GRCh38] Chr5:140871199 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2288C>T (p.Pro763Leu) | single nucleotide variant | Inborn genetic diseases [RCV002737635] | Chr5:141420147 [GRCh38] Chr5:140799714 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1790C>T (p.Ala597Val) | single nucleotide variant | Inborn genetic diseases [RCV002758030] | Chr5:141414965 [GRCh38] Chr5:140794532 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.676G>A (p.Ala226Thr) | single nucleotide variant | Inborn genetic diseases [RCV002868179] | Chr5:141408878 [GRCh38] Chr5:140788445 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His) | single nucleotide variant | Inborn genetic diseases [RCV002693330] | Chr5:141489458 [GRCh38] Chr5:140869025 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018927.4(PCDHGB7):c.1668C>G (p.Asn556Lys) | single nucleotide variant | Inborn genetic diseases [RCV002707392] | Chr5:141419527 [GRCh38] Chr5:140799094 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1205A>G (p.Tyr402Cys) | single nucleotide variant | Inborn genetic diseases [RCV002951415] | Chr5:141419064 [GRCh38] Chr5:140798631 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1732G>A (p.Val578Met) | single nucleotide variant | Inborn genetic diseases [RCV002977519] | Chr5:141419591 [GRCh38] Chr5:140799158 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.664C>A (p.Arg222Ser) | single nucleotide variant | Inborn genetic diseases [RCV002952271] | Chr5:141431423 [GRCh38] Chr5:140810990 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1922G>A (p.Ser641Asn) | single nucleotide variant | Inborn genetic diseases [RCV002660507] | Chr5:141432681 [GRCh38] Chr5:140812248 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys) | single nucleotide variant | Inborn genetic diseases [RCV002739398] | Chr5:141489661 [GRCh38] Chr5:140869228 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1499T>A (p.Ile500Asn) | single nucleotide variant | Inborn genetic diseases [RCV002762009] | Chr5:141414674 [GRCh38] Chr5:140794241 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.28C>T (p.Arg10Cys) | single nucleotide variant | Inborn genetic diseases [RCV002758796] | Chr5:141421255 [GRCh38] Chr5:140800822 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1894C>T (p.Arg632Cys) | single nucleotide variant | Inborn genetic diseases [RCV002661377] | Chr5:141478010 [GRCh38] Chr5:140857577 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2242T>A (p.Leu748Met) | single nucleotide variant | Inborn genetic diseases [RCV002924048] | Chr5:141420101 [GRCh38] Chr5:140799668 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr) | single nucleotide variant | Inborn genetic diseases [RCV002844427] | Chr5:141491083 [GRCh38] Chr5:140870650 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1547A>G (p.Tyr516Cys) | single nucleotide variant | Inborn genetic diseases [RCV002692980] | Chr5:141422774 [GRCh38] Chr5:140802341 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His) | single nucleotide variant | Inborn genetic diseases [RCV002978781] | Chr5:141490181 [GRCh38] Chr5:140869748 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2281A>T (p.Ile761Phe) | single nucleotide variant | Inborn genetic diseases [RCV002661994] | Chr5:141423508 [GRCh38] Chr5:140803075 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1477G>A (p.Ala493Thr) | single nucleotide variant | Inborn genetic diseases [RCV002739921] | Chr5:141419336 [GRCh38] Chr5:140798903 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1781T>C (p.Val594Ala) | single nucleotide variant | Inborn genetic diseases [RCV002888400] | Chr5:141409983 [GRCh38] Chr5:140789550 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1612G>C (p.Ala538Pro) | single nucleotide variant | Inborn genetic diseases [RCV002784983] | Chr5:141414787 [GRCh38] Chr5:140794354 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.509A>T (p.Tyr170Phe) | single nucleotide variant | Inborn genetic diseases [RCV002701807] | Chr5:141408711 [GRCh38] Chr5:140788278 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2231G>A (p.Ser744Asn) | single nucleotide variant | Inborn genetic diseases [RCV002744264] | Chr5:141420090 [GRCh38] Chr5:140799657 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu) | single nucleotide variant | Inborn genetic diseases [RCV002668145] | Chr5:141491544 [GRCh38] Chr5:140871111 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.2369C>T (p.Pro790Leu) | single nucleotide variant | Inborn genetic diseases [RCV002853948] | Chr5:141410571 [GRCh38] Chr5:140790138 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1856G>T (p.Gly619Val) | single nucleotide variant | Inborn genetic diseases [RCV002768460] | Chr5:141415031 [GRCh38] Chr5:140794598 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.349A>T (p.Arg117Trp) | single nucleotide variant | Inborn genetic diseases [RCV002956204] | Chr5:141413524 [GRCh38] Chr5:140793091 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp) | single nucleotide variant | Inborn genetic diseases [RCV002743829] | Chr5:141490369 [GRCh38] Chr5:140869936 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1802A>C (p.Asn601Thr) | single nucleotide variant | Inborn genetic diseases [RCV002768560] | Chr5:141432561 [GRCh38] Chr5:140812128 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys) | single nucleotide variant | Inborn genetic diseases [RCV002742108] | Chr5:141490954 [GRCh38] Chr5:140870521 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.277C>T (p.Arg93Trp) | single nucleotide variant | Inborn genetic diseases [RCV002830714] | Chr5:141421504 [GRCh38] Chr5:140801071 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.619G>T (p.Asp207Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002854115] | Chr5:141485792 [GRCh38] Chr5:140865359 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.649G>A (p.Gly217Arg) | single nucleotide variant | Inborn genetic diseases [RCV002787534] | Chr5:141485822 [GRCh38] Chr5:140865389 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.244G>A (p.Gly82Arg) | single nucleotide variant | Inborn genetic diseases [RCV002699148] | Chr5:141408446 [GRCh38] Chr5:140788013 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1129C>T (p.Pro377Ser) | single nucleotide variant | Inborn genetic diseases [RCV002875241] | Chr5:141486302 [GRCh38] Chr5:140865869 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.2057C>A (p.Thr686Asn) | single nucleotide variant | Inborn genetic diseases [RCV002666229] | Chr5:141432816 [GRCh38] Chr5:140812383 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln) | single nucleotide variant | Inborn genetic diseases [RCV002698663] | Chr5:141490370 [GRCh38] Chr5:140869937 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.83C>T (p.Thr28Ile) | single nucleotide variant | Inborn genetic diseases [RCV002802373] | Chr5:141408285 [GRCh38] Chr5:140787852 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.605G>T (p.Arg202Leu) | single nucleotide variant | Inborn genetic diseases [RCV002789895] | Chr5:141431364 [GRCh38] Chr5:140810931 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1601C>G (p.Ala534Gly) | single nucleotide variant | Inborn genetic diseases [RCV002665205] | Chr5:141409803 [GRCh38] Chr5:140789370 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.840A>T (p.Glu280Asp) | single nucleotide variant | Inborn genetic diseases [RCV002850057] | Chr5:141414015 [GRCh38] Chr5:140793582 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2367G>T (p.Lys789Asn) | single nucleotide variant | Inborn genetic diseases [RCV002764626] | Chr5:141487540 [GRCh38] Chr5:140867107 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.2375A>G (p.His792Arg) | single nucleotide variant | Inborn genetic diseases [RCV002788827] | Chr5:141410577 [GRCh38] Chr5:140790144 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.619G>A (p.Glu207Lys) | single nucleotide variant | Inborn genetic diseases [RCV002827363] | Chr5:141413794 [GRCh38] Chr5:140793361 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1046C>A (p.Ala349Asp) | single nucleotide variant | Inborn genetic diseases [RCV002640789] | Chr5:141477162 [GRCh38] Chr5:140856729 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.598C>G (p.Arg200Gly) | single nucleotide variant | Inborn genetic diseases [RCV002767610] | Chr5:141476714 [GRCh38] Chr5:140856281 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.995T>C (p.Leu332Pro) | single nucleotide variant | Inborn genetic diseases [RCV002763057] | Chr5:141414170 [GRCh38] Chr5:140793737 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1482C>G (p.Phe494Leu) | single nucleotide variant | Inborn genetic diseases [RCV002915644] | Chr5:141477598 [GRCh38] Chr5:140857165 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1036C>T (p.Pro346Ser) | single nucleotide variant | Inborn genetic diseases [RCV002787729] | Chr5:141422263 [GRCh38] Chr5:140801830 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.988A>G (p.Asn330Asp) | single nucleotide variant | Inborn genetic diseases [RCV002713285] | Chr5:141477104 [GRCh38] Chr5:140856671 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1616C>T (p.Ser539Leu) | single nucleotide variant | Inborn genetic diseases [RCV003004655] | Chr5:141419475 [GRCh38] Chr5:140799042 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.164A>G (p.Asp55Gly) | single nucleotide variant | Inborn genetic diseases [RCV002767967] | Chr5:141413339 [GRCh38] Chr5:140792906 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.152A>C (p.Asp51Ala) | single nucleotide variant | Inborn genetic diseases [RCV003006720] | Chr5:141430911 [GRCh38] Chr5:140810478 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1519G>A (p.Val507Met) | single nucleotide variant | Inborn genetic diseases [RCV002787689] | Chr5:141409721 [GRCh38] Chr5:140789288 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1733T>G (p.Leu578Arg) | single nucleotide variant | Inborn genetic diseases [RCV002764476] | Chr5:141422960 [GRCh38] Chr5:140802527 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.661C>A (p.Pro221Thr) | single nucleotide variant | Inborn genetic diseases [RCV002916781] | Chr5:141418520 [GRCh38] Chr5:140798087 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2389G>A (p.Gly797Arg) | single nucleotide variant | Inborn genetic diseases [RCV002699836] | Chr5:141487562 [GRCh38] Chr5:140867129 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2084T>C (p.Ile695Thr) | single nucleotide variant | Inborn genetic diseases [RCV003006603] | Chr5:141491324 [GRCh38] Chr5:140870891 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1511C>A (p.Pro504His) | single nucleotide variant | Inborn genetic diseases [RCV003004249] | Chr5:141414686 [GRCh38] Chr5:140794253 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1450C>T (p.Pro484Ser) | single nucleotide variant | Inborn genetic diseases [RCV002955393] | Chr5:141477566 [GRCh38] Chr5:140857133 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1534G>C (p.Gly512Arg) | single nucleotide variant | Inborn genetic diseases [RCV002941437] | Chr5:141419393 [GRCh38] Chr5:140798960 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.268A>C (p.Ile90Leu) | single nucleotide variant | Inborn genetic diseases [RCV002896933] | Chr5:141485441 [GRCh38] Chr5:140865008 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.574C>T (p.Pro192Ser) | single nucleotide variant | Inborn genetic diseases [RCV002718947] | Chr5:141408776 [GRCh38] Chr5:140788343 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu) | single nucleotide variant | Inborn genetic diseases [RCV002836093] | Chr5:141490825 [GRCh38] Chr5:140870392 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1703G>A (p.Gly568Asp) | single nucleotide variant | Inborn genetic diseases [RCV002940110] | Chr5:141419562 [GRCh38] Chr5:140799129 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1204T>A (p.Tyr402Asn) | single nucleotide variant | Inborn genetic diseases [RCV002813367] | Chr5:141419063 [GRCh38] Chr5:140798630 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.107C>T (p.Ser36Leu) | single nucleotide variant | Inborn genetic diseases [RCV002836064] | Chr5:141408309 [GRCh38] Chr5:140787876 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1261C>T (p.Pro421Ser) | single nucleotide variant | Inborn genetic diseases [RCV002896889] | Chr5:141477377 [GRCh38] Chr5:140856944 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1723G>A (p.Gly575Ser) | single nucleotide variant | Inborn genetic diseases [RCV002920238] | Chr5:141414898 [GRCh38] Chr5:140794465 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met) | single nucleotide variant | Inborn genetic diseases [RCV002920461] | Chr5:141490393 [GRCh38] Chr5:140869960 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His) | single nucleotide variant | Inborn genetic diseases [RCV002769865] | Chr5:141490130 [GRCh38] Chr5:140869697 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.286T>G (p.Cys96Gly) | single nucleotide variant | Inborn genetic diseases [RCV002988173] | Chr5:141408488 [GRCh38] Chr5:140788055 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.993T>G (p.Cys331Trp) | single nucleotide variant | Inborn genetic diseases [RCV002714205] | Chr5:141409195 [GRCh38] Chr5:140788762 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1990C>G (p.Leu664Val) | single nucleotide variant | Inborn genetic diseases [RCV002898060] | Chr5:141415165 [GRCh38] Chr5:140794732 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.286T>C (p.Cys96Arg) | single nucleotide variant | Inborn genetic diseases [RCV002669198] | Chr5:141408488 [GRCh38] Chr5:140788055 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His) | single nucleotide variant | Inborn genetic diseases [RCV003008772] | Chr5:141490208 [GRCh38] Chr5:140869775 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2213C>T (p.Thr738Met) | single nucleotide variant | Inborn genetic diseases [RCV002936076] | Chr5:141423440 [GRCh38] Chr5:140803007 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser) | single nucleotide variant | Inborn genetic diseases [RCV002673562] | Chr5:141489947 [GRCh38] Chr5:140869514 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.445C>T (p.Pro149Ser) | single nucleotide variant | Inborn genetic diseases [RCV002935684] | Chr5:141421672 [GRCh38] Chr5:140801239 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1606A>G (p.Thr536Ala) | single nucleotide variant | Inborn genetic diseases [RCV002964042] | Chr5:141477722 [GRCh38] Chr5:140857289 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1661A>G (p.Asn554Ser) | single nucleotide variant | Inborn genetic diseases [RCV002831843] | Chr5:141477777 [GRCh38] Chr5:140857344 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.577G>A (p.Val193Ile) | single nucleotide variant | Inborn genetic diseases [RCV002935255] | Chr5:141413752 [GRCh38] Chr5:140793319 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1942G>A (p.Asp648Asn) | single nucleotide variant | Inborn genetic diseases [RCV002648768] | Chr5:141432701 [GRCh38] Chr5:140812268 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2191G>T (p.Gly731Cys) | single nucleotide variant | Inborn genetic diseases [RCV002940784] | Chr5:141423418 [GRCh38] Chr5:140802985 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1888C>G (p.Arg630Gly) | single nucleotide variant | Inborn genetic diseases [RCV002855312] | Chr5:141432647 [GRCh38] Chr5:140812214 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.2186C>A (p.Pro729His) | single nucleotide variant | Inborn genetic diseases [RCV002855482] | Chr5:141410388 [GRCh38] Chr5:140789955 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.853G>A (p.Ala285Thr) | single nucleotide variant | Inborn genetic diseases [RCV002703193] | Chr5:141409055 [GRCh38] Chr5:140788622 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.427G>A (p.Val143Ile) | single nucleotide variant | Inborn genetic diseases [RCV003010866] | Chr5:141421654 [GRCh38] Chr5:140801221 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.356T>C (p.Val119Ala) | single nucleotide variant | Inborn genetic diseases [RCV002680402] | Chr5:141431115 [GRCh38] Chr5:140810682 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.32G>C (p.Ser11Thr) | single nucleotide variant | Inborn genetic diseases [RCV002944392] | Chr5:141421259 [GRCh38] Chr5:140800826 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.366G>C (p.Glu122Asp) | single nucleotide variant | Inborn genetic diseases [RCV002944525] | Chr5:141485539 [GRCh38] Chr5:140865106 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1510G>A (p.Gly504Arg) | single nucleotide variant | Inborn genetic diseases [RCV002678665] | Chr5:141477626 [GRCh38] Chr5:140857193 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1411A>G (p.Ile471Val) | single nucleotide variant | Inborn genetic diseases [RCV002652357] | Chr5:141409613 [GRCh38] Chr5:140789180 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.761A>T (p.Asp254Val) | single nucleotide variant | Inborn genetic diseases [RCV002652451] | Chr5:141418620 [GRCh38] Chr5:140798187 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2051C>T (p.Ser684Phe) | single nucleotide variant | Inborn genetic diseases [RCV002680184] | Chr5:141419910 [GRCh38] Chr5:140799477 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1657G>C (p.Val553Leu) | single nucleotide variant | Inborn genetic diseases [RCV002656012] | Chr5:141422884 [GRCh38] Chr5:140802451 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1425C>A (p.Ser475Arg) | single nucleotide variant | Inborn genetic diseases [RCV002677358] | Chr5:141409627 [GRCh38] Chr5:140789194 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1189C>A (p.Leu397Ile) | single nucleotide variant | Inborn genetic diseases [RCV002678388] | Chr5:141486362 [GRCh38] Chr5:140865929 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1339G>C (p.Asp447His) | single nucleotide variant | Inborn genetic diseases [RCV003254885] | Chr5:141409541 [GRCh38] Chr5:140789108 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.286C>G (p.Leu96Val) | single nucleotide variant | Inborn genetic diseases [RCV003279262] | Chr5:141421513 [GRCh38] Chr5:140801080 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2045T>C (p.Leu682Pro) | single nucleotide variant | Inborn genetic diseases [RCV003257183] | Chr5:141423272 [GRCh38] Chr5:140802839 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018929.3(PCDHGC5):c.31G>A (p.Gly11Arg) | single nucleotide variant | Inborn genetic diseases [RCV003219910] | Chr5:141489271 [GRCh38] Chr5:140868838 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2297A>T (p.Asn766Ile) | single nucleotide variant | Inborn genetic diseases [RCV003209835] | Chr5:141420156 [GRCh38] Chr5:140799723 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val) | single nucleotide variant | Inborn genetic diseases [RCV003220538] | Chr5:141491683 [GRCh38] Chr5:140871250 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.69C>A (p.His23Gln) | single nucleotide variant | Inborn genetic diseases [RCV003189227] | Chr5:141485242 [GRCh38] Chr5:140864809 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1062C>G (p.Ser354Arg) | single nucleotide variant | Inborn genetic diseases [RCV003205045] | Chr5:141431821 [GRCh38] Chr5:140811388 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1036G>A (p.Glu346Lys) | single nucleotide variant | Inborn genetic diseases [RCV003203956] | Chr5:141431795 [GRCh38] Chr5:140811362 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1298G>C (p.Ser433Thr) | single nucleotide variant | Inborn genetic diseases [RCV003206952] | Chr5:141414473 [GRCh38] Chr5:140794040 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.682C>T (p.Leu228Phe) | single nucleotide variant | Inborn genetic diseases [RCV003212821] | Chr5:141485855 [GRCh38] Chr5:140865422 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.460G>C (p.Ala154Pro) | single nucleotide variant | Inborn genetic diseases [RCV003191248] | Chr5:141421687 [GRCh38] Chr5:140801254 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018914.3(PCDHGA11):c.499T>G (p.Ser167Ala) | single nucleotide variant | Inborn genetic diseases [RCV003212994] | Chr5:141421726 [GRCh38] Chr5:140801293 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.829A>G (p.Ile277Val) | single nucleotide variant | Inborn genetic diseases [RCV003210513] | Chr5:141409031 [GRCh38] Chr5:140788598 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2311G>A (p.Val771Ile) | single nucleotide variant | Inborn genetic diseases [RCV003173298] | Chr5:141420170 [GRCh38] Chr5:140799737 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.182T>G (p.Val61Gly) | single nucleotide variant | Inborn genetic diseases [RCV003173761] | Chr5:141418041 [GRCh38] Chr5:140797608 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1523A>C (p.Asn508Thr) | single nucleotide variant | Inborn genetic diseases [RCV003175322] | Chr5:141432282 [GRCh38] Chr5:140811849 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2030C>G (p.Ser677Cys) | single nucleotide variant | Inborn genetic diseases [RCV003212739] | Chr5:141491270 [GRCh38] Chr5:140870837 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.100C>T (p.Arg34Cys) | single nucleotide variant | Inborn genetic diseases [RCV003190958] | Chr5:141417959 [GRCh38] Chr5:140797526 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003201204] | Chr5:141491410 [GRCh38] Chr5:140870977 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1552A>G (p.Ile518Val) | single nucleotide variant | Inborn genetic diseases [RCV003201369] | Chr5:141477668 [GRCh38] Chr5:140857235 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_003735.3(PCDHGA12):c.698T>C (p.Leu233Pro) | single nucleotide variant | Inborn genetic diseases [RCV003200279] | Chr5:141431457 [GRCh38] Chr5:140811024 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.511A>G (p.Lys171Glu) | single nucleotide variant | Inborn genetic diseases [RCV003199889] | Chr5:141408713 [GRCh38] Chr5:140788280 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.334G>A (p.Gly112Ser) | single nucleotide variant | Inborn genetic diseases [RCV003199316] | Chr5:141485507 [GRCh38] Chr5:140865074 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.163G>A (p.Asp55Asn) | single nucleotide variant | Inborn genetic diseases [RCV003212014] | Chr5:141485336 [GRCh38] Chr5:140864903 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1983T>A (p.His661Gln) | single nucleotide variant | Inborn genetic diseases [RCV003212157] | Chr5:141410185 [GRCh38] Chr5:140789752 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1584C>G (p.Phe528Leu) | single nucleotide variant | Inborn genetic diseases [RCV003302410] | Chr5:141419443 [GRCh38] Chr5:140799010 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1939G>A (p.Val647Ile) | single nucleotide variant | Inborn genetic diseases [RCV003197142] | Chr5:141423166 [GRCh38] Chr5:140802733 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1924C>T (p.Leu642Phe) | single nucleotide variant | Inborn genetic diseases [RCV003208118] | Chr5:141432683 [GRCh38] Chr5:140812250 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1267T>G (p.Leu423Val) | single nucleotide variant | Inborn genetic diseases [RCV003179728] | Chr5:141422494 [GRCh38] Chr5:140802061 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1731G>A (p.Met577Ile) | single nucleotide variant | Inborn genetic diseases [RCV003185475] | Chr5:141409933 [GRCh38] Chr5:140789500 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.560A>T (p.Asp187Val) | single nucleotide variant | Inborn genetic diseases [RCV003183256] | Chr5:141408762 [GRCh38] Chr5:140788329 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.28C>G (p.Arg10Gly) | single nucleotide variant | Inborn genetic diseases [RCV003185687] | Chr5:141421255 [GRCh38] Chr5:140800822 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.2125G>A (p.Val709Met) | single nucleotide variant | Inborn genetic diseases [RCV003195812] | Chr5:141487298 [GRCh38] Chr5:140866865 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.664C>T (p.Pro222Ser) | single nucleotide variant | Inborn genetic diseases [RCV003179987] | Chr5:141476780 [GRCh38] Chr5:140856347 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.736G>A (p.Val246Met) | single nucleotide variant | Inborn genetic diseases [RCV003215238] | Chr5:141418595 [GRCh38] Chr5:140798162 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg) | single nucleotide variant | Inborn genetic diseases [RCV003204042] | Chr5:141490646 [GRCh38] Chr5:140870213 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2378T>G (p.Leu793Trp) | single nucleotide variant | Inborn genetic diseases [RCV003186280] | Chr5:141423605 [GRCh38] Chr5:140803172 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2078A>G (p.Tyr693Cys) | single nucleotide variant | Inborn genetic diseases [RCV003180985] | Chr5:141423305 [GRCh38] Chr5:140802872 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2300C>A (p.Thr767Lys) | single nucleotide variant | Inborn genetic diseases [RCV003193587] | Chr5:141491540 [GRCh38] Chr5:140871107 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1634A>G (p.His545Arg) | single nucleotide variant | Inborn genetic diseases [RCV003197636] | Chr5:141490874 [GRCh38] Chr5:140870441 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.1481C>A (p.Ser494Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003198748] | Chr5:141414656 [GRCh38] Chr5:140794223 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.532T>C (p.Phe178Leu) | single nucleotide variant | Inborn genetic diseases [RCV003173125] | Chr5:141408734 [GRCh38] Chr5:140788301 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His) | single nucleotide variant | Inborn genetic diseases [RCV003264729] | Chr5:141491126 [GRCh38] Chr5:140870693 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.989A>G (p.Asn330Ser) | single nucleotide variant | Inborn genetic diseases [RCV003309124] | Chr5:141477105 [GRCh38] Chr5:140856672 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018914.3(PCDHGA11):c.1018G>C (p.Asp340His) | single nucleotide variant | Inborn genetic diseases [RCV003339357] | Chr5:141422245 [GRCh38] Chr5:140801812 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2426G>A (p.Arg809Gln) | single nucleotide variant | Inborn genetic diseases [RCV003356760] | Chr5:141491666 [GRCh38] Chr5:140871233 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.2431C>A (p.Gln811Lys) | single nucleotide variant | Inborn genetic diseases [RCV003359175] | Chr5:141494807 [GRCh38] Chr5:140874374 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His) | single nucleotide variant | Inborn genetic diseases [RCV003379302] | Chr5:141489969 [GRCh38] Chr5:140869536 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.408T>G (p.Ser136Arg) | single nucleotide variant | Inborn genetic diseases [RCV003378740] | Chr5:141431167 [GRCh38] Chr5:140810734 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1057T>C (p.Ser353Pro) | single nucleotide variant | Inborn genetic diseases [RCV003343455] | Chr5:141409259 [GRCh38] Chr5:140788826 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.503A>G (p.Gln168Arg) | single nucleotide variant | Inborn genetic diseases [RCV003358803] | Chr5:141431262 [GRCh38] Chr5:140810829 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_002588.4(PCDHGC3):c.1571C>A (p.Pro524His) | single nucleotide variant | Inborn genetic diseases [RCV003359110] | Chr5:141477687 [GRCh38] Chr5:140857254 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1310C>T (p.Thr437Ile) | single nucleotide variant | Inborn genetic diseases [RCV003345650] | Chr5:141419169 [GRCh38] Chr5:140798736 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.1085C>T (p.Pro362Leu) | single nucleotide variant | Inborn genetic diseases [RCV003359748] | Chr5:141422312 [GRCh38] Chr5:140801879 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1825C>T (p.Leu609Phe) | single nucleotide variant | Inborn genetic diseases [RCV003376390] | Chr5:141432584 [GRCh38] Chr5:140812151 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1202A>T (p.Glu401Val) | single nucleotide variant | Inborn genetic diseases [RCV003383423] | Chr5:141490442 [GRCh38] Chr5:140870009 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018913.3(PCDHGA10):c.2411C>T (p.Pro804Leu) | single nucleotide variant | Inborn genetic diseases [RCV003351068] | Chr5:141415586 [GRCh38] Chr5:140795153 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys) | single nucleotide variant | Inborn genetic diseases [RCV003367097] | Chr5:141491254 [GRCh38] Chr5:140870821 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.1091T>A (p.Val364Glu) | single nucleotide variant | Inborn genetic diseases [RCV003361990] | Chr5:141418950 [GRCh38] Chr5:140798517 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.1070T>G (p.Leu357Trp) | single nucleotide variant | Inborn genetic diseases [RCV003362281] | Chr5:141409272 [GRCh38] Chr5:140788839 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.592G>C (p.Glu198Gln) | single nucleotide variant | Inborn genetic diseases [RCV003349531] | Chr5:141421819 [GRCh38] Chr5:140801386 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.191T>G (p.Val64Gly) | single nucleotide variant | Inborn genetic diseases [RCV003350326] | Chr5:141430950 [GRCh38] Chr5:140810517 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018926.3(PCDHGB6):c.119A>G (p.Glu40Gly) | single nucleotide variant | Inborn genetic diseases [RCV003385341] | Chr5:141408321 [GRCh38] Chr5:140787888 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_003735.3(PCDHGA12):c.1869G>A (p.Thr623=) | single nucleotide variant | Inborn genetic diseases [RCV003386192] | Chr5:141432628 [GRCh38] Chr5:140812195 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_002588.4(PCDHGC3):c.921G>T (p.Lys307Asn) | single nucleotide variant | Inborn genetic diseases [RCV003354374] | Chr5:141477037 [GRCh38] Chr5:140856604 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018914.3(PCDHGA11):c.2374C>T (p.Leu792Phe) | single nucleotide variant | Inborn genetic diseases [RCV003361815] | Chr5:141423601 [GRCh38] Chr5:140803168 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1433C>A (p.Ala478Glu) | single nucleotide variant | Inborn genetic diseases [RCV003376172] | Chr5:141486606 [GRCh38] Chr5:140866173 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.886C>T (p.His296Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003363824] | Chr5:141486059 [GRCh38] Chr5:140865626 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=) | single nucleotide variant | not provided [RCV003429858] | Chr5:141505414 [GRCh38] Chr5:140884981 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_003736.4(PCDHGB4):c.2397+42563A>G | single nucleotide variant | not provided [RCV003428654] | Chr5:141432844 [GRCh38] Chr5:140812411 [GRCh37] Chr5:5q31.3 |
benign |
NM_018913.3(PCDHGA10):c.2109G>C (p.Ala703=) | single nucleotide variant | not provided [RCV003429855] | Chr5:141415284 [GRCh38] Chr5:140794851 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018926.3(PCDHGB6):c.2268T>C (p.Ile756=) | single nucleotide variant | not provided [RCV003428653] | Chr5:141410470 [GRCh38] Chr5:140790037 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_003735.3(PCDHGA12):c.1110T>C (p.Asn370=) | single nucleotide variant | not provided [RCV003429856] | Chr5:141431869 [GRCh38] Chr5:140811436 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018926.3(PCDHGB6):c.1962C>T (p.Leu654=) | single nucleotide variant | not provided [RCV003428652] | Chr5:141410164 [GRCh38] Chr5:140789731 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=) | single nucleotide variant | not provided [RCV003429852] | Chr5:141409348 [GRCh38] Chr5:140788915 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018926.3(PCDHGB6):c.2252C>T (p.Ser751Phe) | single nucleotide variant | not provided [RCV003429853] | Chr5:141410454 [GRCh38] Chr5:140790021 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=) | single nucleotide variant | not provided [RCV003429854] | Chr5:141414165 [GRCh38] Chr5:140793732 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_003735.3(PCDHGA12):c.1656G>A (p.Val552=) | single nucleotide variant | not provided [RCV003429857] | Chr5:141432415 [GRCh38] Chr5:140811982 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu) | single nucleotide variant | not provided [RCV003428655] | Chr5:141487265 [GRCh38] Chr5:140866832 [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. |
D5S2538 |
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RH91455 |
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5q31-33_24 |
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PCDHGC3__1203 |
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PCDHGC4_2483 |
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PCDHGA10_7046 |
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PCDHGA10__7046 |
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AF022190 |
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STS-R97031 |
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T03558 |
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SHGC-76190 |
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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 | 1 | 1 | 16 | 22 | 5 | 22 | 4 | |||||||||||
Low | 2062 | 2180 | 1459 | 374 | 703 | 214 | 4164 | 1976 | 3391 | 246 | 1318 | 1460 | 169 | 1 | 1204 | 2668 | 4 | 2 |
Below cutoff | 350 | 720 | 249 | 233 | 1104 | 234 | 173 | 219 | 321 | 158 | 110 | 133 | 4 | 120 | 1 |
RefSeq Transcripts | NG_000012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001386906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC005366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC005618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC008781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152522 | (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: | ENST00000520790 ⟹ ENSP00000428603 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000616430 ⟹ ENSP00000479143 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001386906 ⟹ NP_001373835 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_018926 ⟹ NP_061749 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_032100 ⟹ NP_115271 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001373835 | (Get FASTA) | NCBI Sequence Viewer |
NP_061749 | (Get FASTA) | NCBI Sequence Viewer | |
NP_115271 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD43729 | (Get FASTA) | NCBI Sequence Viewer |
AAD43782 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61928 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61933 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000428603 | ||
ENSP00000428603.1 | |||
ENSP00000479143 | |||
ENSP00000479143.1 | |||
GenBank Protein | Q9Y5F9 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061749 ⟸ NM_018926 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q9Y5C5 (UniProtKB/Swiss-Prot), Q9Y5F9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_115271 ⟸ NM_032100 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q9Y5F9 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000428603 ⟸ ENST00000520790 |
RefSeq Acc Id: | ENSP00000479143 ⟸ ENST00000616430 |
RefSeq Acc Id: | NP_001373835 ⟸ NM_001386906 |
- Peptide Label: | isoform 3 precursor |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y5F9-F1-model_v2 | AlphaFold | Q9Y5F9 | 1-930 | view protein structure |
RGD ID: | 6870990 | ||||||||
Promoter ID: | EPDNEW_H8659 | ||||||||
Type: | initiation region | ||||||||
Name: | PCDHGB6_1 | ||||||||
Description: | protocadherin gamma subfamily B, 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H8660 EPDNEW_H8661 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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RGD ID: | 6870992 | ||||||||
Promoter ID: | EPDNEW_H8660 | ||||||||
Type: | initiation region | ||||||||
Name: | PCDHGB6_3 | ||||||||
Description: | protocadherin gamma subfamily B, 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H8659 EPDNEW_H8661 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6870994 | ||||||||
Promoter ID: | EPDNEW_H8661 | ||||||||
Type: | initiation region | ||||||||
Name: | PCDHGB6_2 | ||||||||
Description: | protocadherin gamma subfamily B, 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H8659 EPDNEW_H8660 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:8713 | AgrOrtholog |
COSMIC | PCDHGB6 | COSMIC |
Ensembl Genes | ENSG00000253305 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000520790 | ENTREZGENE |
ENST00000520790.2 | UniProtKB/Swiss-Prot | |
ENST00000616430 | ENTREZGENE | |
ENST00000616430.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Cadherins | UniProtKB/Swiss-Prot |
GTEx | ENSG00000253305 | GTEx |
HGNC ID | HGNC:8713 | ENTREZGENE |
Human Proteome Map | PCDHGB6 | Human Proteome Map |
InterPro | Cadherin-like_dom | UniProtKB/Swiss-Prot |
Cadherin-like_sf | UniProtKB/Swiss-Prot | |
Cadherin_C | UniProtKB/Swiss-Prot | |
Cadherin_CBD | UniProtKB/Swiss-Prot | |
Cadherin_CS | UniProtKB/Swiss-Prot | |
Cadherin_N | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:56100 | UniProtKB/Swiss-Prot |
NCBI Gene | 56100 | ENTREZGENE |
OMIM | 606303 | OMIM |
PANTHER | CADHERIN-87A | UniProtKB/Swiss-Prot |
PROTOCADHERIN GAMMA-B6 | UniProtKB/Swiss-Prot | |
Pfam | Cadherin | UniProtKB/Swiss-Prot |
Cadherin_2 | UniProtKB/Swiss-Prot | |
Cadherin_C_2 | UniProtKB/Swiss-Prot | |
Cadherin_tail | UniProtKB/Swiss-Prot | |
PharmGKB | PA33061 | PharmGKB |
PRINTS | CADHERIN | UniProtKB/Swiss-Prot |
PROSITE | CADHERIN_1 | UniProtKB/Swiss-Prot |
CADHERIN_2 | UniProtKB/Swiss-Prot | |
SMART | SM00112 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF49313 | UniProtKB/Swiss-Prot |
UniProt | PCDGI_HUMAN | UniProtKB/Swiss-Prot |
Q9Y5C5 | ENTREZGENE | |
Q9Y5F9 | ENTREZGENE | |
UniProt Secondary | Q9Y5C5 | UniProtKB/Swiss-Prot |