Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES | | IAGP | | 7240710 | | OMIM | | |
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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:12477932 | PMID:18029348 | PMID:21873635 | PMID:28514442 | PMID:28625976 | PMID:33961781 |
PCDHGC4 (Homo sapiens - human) |
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Pcdhgc4 (Mus musculus - house mouse) |
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Variants in PCDHGC4
84 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_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 |
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 |
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 | not specified [RCV004330206] | Chr5:141490850 [GRCh38] Chr5:140870417 [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 |
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_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 |
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 |
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.890C>T (p.Pro297Leu) | single nucleotide variant | Inborn genetic diseases [RCV003291368] | Chr5:141486063 [GRCh38] Chr5:140865630 [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.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.2640C>T (p.Ser880=) | single nucleotide variant | not provided [RCV000914990] | Chr5:141511002 [GRCh38] Chr5:140890569 [GRCh37] Chr5:5q31.3 |
likely 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_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_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.1463C>T (p.Ala488Val) | single nucleotide variant | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248462]|not provided [RCV003989138] | Chr5:141486636 [GRCh38] Chr5:140866203 [GRCh37] Chr5:5q31.3 |
pathogenic|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.324del (p.Phe108fs) | deletion | Neurodevelopmental disorder with poor growth and skeletal anomalies [RCV002248463] | Chr5:141485495 [GRCh38] Chr5:140865062 [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.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_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 |
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>A (p.Gln40Lys) | single nucleotide variant | Inborn genetic diseases [RCV002753807] | Chr5:141485291 [GRCh38] Chr5:140864858 [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_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_018929.3(PCDHGC5):c.967C>G (p.Arg323Gly) | single nucleotide variant | not specified [RCV004208596] | Chr5:141490207 [GRCh38] Chr5:140869774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.95G>A (p.Arg32His) | single nucleotide variant | not specified [RCV004237461] | Chr5:141489335 [GRCh38] Chr5:140868902 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018917.4(PCDHGA4):c.2765G>A (p.Arg922His) | single nucleotide variant | not specified [RCV004192294] | Chr5:141511049 [GRCh38] Chr5:140890616 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1531C>T (p.Pro511Ser) | single nucleotide variant | not specified [RCV004137374] | Chr5:141490771 [GRCh38] Chr5:140870338 [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_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_018929.3(PCDHGC5):c.684C>G (p.Ile228Met) | single nucleotide variant | not specified [RCV004156927] | Chr5:141489924 [GRCh38] Chr5:140869491 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.967C>T (p.Arg323Cys) | single nucleotide variant | not specified [RCV004167159] | Chr5:141490207 [GRCh38] Chr5:140869774 [GRCh37] Chr5:5q31.3 |
uncertain significance |
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.2092G>A (p.Val698Met) | single nucleotide variant | Inborn genetic diseases [RCV002859331] | Chr5:141487265 [GRCh38] Chr5:140866832 [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_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.1254A>T (p.Lys418Asn) | single nucleotide variant | Inborn genetic diseases [RCV002760039] | Chr5:141486427 [GRCh38] Chr5:140865994 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.353G>A (p.Arg118His) | single nucleotide variant | not specified [RCV004071389] | Chr5:141489593 [GRCh38] Chr5:140869160 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2351G>A (p.Gly784Asp) | single nucleotide variant | not specified [RCV004140527] | Chr5:141491591 [GRCh38] Chr5:140871158 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2392C>A (p.Pro798Thr) | single nucleotide variant | not specified [RCV004115286] | Chr5:141491632 [GRCh38] Chr5:140871199 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.218G>A (p.Arg73His) | single nucleotide variant | not specified [RCV004222544] | Chr5:141489458 [GRCh38] Chr5:140869025 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018929.3(PCDHGC5):c.421C>T (p.Arg141Cys) | single nucleotide variant | not specified [RCV004226795] | Chr5:141489661 [GRCh38] Chr5:140869228 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1843G>A (p.Ala615Thr) | single nucleotide variant | not specified [RCV004133311] | Chr5:141491083 [GRCh38] Chr5:140870650 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.941G>A (p.Arg314His) | single nucleotide variant | not specified [RCV004199026] | Chr5:141490181 [GRCh38] Chr5:140869748 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2304C>G (p.Asp768Glu) | single nucleotide variant | not specified [RCV004073658] | Chr5:141491544 [GRCh38] Chr5:140871111 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1714G>A (p.Glu572Lys) | single nucleotide variant | not specified [RCV004101050] | Chr5:141490954 [GRCh38] Chr5:140870521 [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_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_018929.3(PCDHGC5):c.1130G>A (p.Arg377Gln) | single nucleotide variant | not specified [RCV004224705] | Chr5:141490370 [GRCh38] Chr5:140869937 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1129C>T (p.Arg377Trp) | single nucleotide variant | not specified [RCV004230672] | Chr5:141490369 [GRCh38] Chr5:140869936 [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_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.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 | not specified [RCV004210857] | Chr5:141491324 [GRCh38] Chr5:140870891 [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_018929.3(PCDHGC5):c.1585A>T (p.Met529Leu) | single nucleotide variant | not specified [RCV004136486] | Chr5:141490825 [GRCh38] Chr5:140870392 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1153G>A (p.Val385Met) | single nucleotide variant | not specified [RCV004168963] | Chr5:141490393 [GRCh38] Chr5:140869960 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.890C>A (p.Pro297His) | single nucleotide variant | not specified [RCV004237735] | Chr5:141490130 [GRCh38] Chr5:140869697 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.968G>A (p.Arg323His) | single nucleotide variant | not specified [RCV004208033] | Chr5:141490208 [GRCh38] Chr5:140869775 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.707A>G (p.Asn236Ser) | single nucleotide variant | not specified [RCV004088599] | Chr5:141489947 [GRCh38] Chr5:140869514 [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_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_018929.3(PCDHGC5):c.31G>A (p.Gly11Arg) | single nucleotide variant | not specified [RCV004277859] | Chr5:141489271 [GRCh38] Chr5:140868838 [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_018929.3(PCDHGC5):c.2443C>G (p.Leu815Val) | single nucleotide variant | not specified [RCV004286892] | 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_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_018929.3(PCDHGC5):c.2030C>G (p.Ser677Cys) | single nucleotide variant | not specified [RCV004274098] | Chr5:141491270 [GRCh38] Chr5:140870837 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2170G>T (p.Asp724Tyr) | single nucleotide variant | not specified [RCV004280562] | Chr5:141491410 [GRCh38] Chr5:140870977 [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_018929.3(PCDHGC5):c.1634A>G (p.His545Arg) | single nucleotide variant | not specified [RCV004261769] | Chr5:141490874 [GRCh38] Chr5:140870441 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1406C>G (p.Pro469Arg) | single nucleotide variant | not specified [RCV004271413] | Chr5:141490646 [GRCh38] Chr5:140870213 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2300C>A (p.Thr767Lys) | single nucleotide variant | not specified [RCV004270999] | Chr5:141491540 [GRCh38] Chr5:140871107 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1886G>A (p.Arg629His) | single nucleotide variant | not specified [RCV004293301] | Chr5:141491126 [GRCh38] Chr5:140870693 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2426G>A (p.Arg809Gln) | single nucleotide variant | not specified [RCV004345773] | Chr5:141491666 [GRCh38] Chr5:140871233 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.729A>T (p.Gln243His) | single nucleotide variant | not specified [RCV004358941] | Chr5:141489969 [GRCh38] Chr5:140869536 [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.1202A>T (p.Glu401Val) | single nucleotide variant | not specified [RCV004361734] | Chr5:141490442 [GRCh38] Chr5:140870009 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.2014G>A (p.Glu672Lys) | single nucleotide variant | not specified [RCV004353949] | Chr5:141491254 [GRCh38] Chr5:140870821 [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_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 |
NM_018928.3(PCDHGC4):c.1868G>A (p.Arg623Gln) | single nucleotide variant | PCDHGC4-related condition [RCV003926937] | Chr5:141487041 [GRCh38] Chr5:140866608 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.1955G>T (p.Ser652Ile) | single nucleotide variant | not provided [RCV003885911] | Chr5:141487128 [GRCh38] Chr5:140866695 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.1741C>A (p.Pro581Thr) | single nucleotide variant | Inborn genetic diseases [RCV004500551] | Chr5:141486914 [GRCh38] Chr5:140866481 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.1717C>G (p.His573Asp) | single nucleotide variant | not specified [RCV004500558] | Chr5:141490957 [GRCh38] Chr5:140870524 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.317T>C (p.Val106Ala) | single nucleotide variant | not specified [RCV004500560] | Chr5:141489557 [GRCh38] Chr5:140869124 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.479C>T (p.Pro160Leu) | single nucleotide variant | not specified [RCV004500563] | Chr5:141489719 [GRCh38] Chr5:140869286 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.692C>T (p.Ser231Phe) | single nucleotide variant | Inborn genetic diseases [RCV004500555] | Chr5:141485865 [GRCh38] Chr5:140865432 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.352C>T (p.Arg118Cys) | single nucleotide variant | not specified [RCV004500561] | Chr5:141489592 [GRCh38] Chr5:140869159 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.665G>A (p.Arg222His) | single nucleotide variant | not specified [RCV004500568] | Chr5:141489905 [GRCh38] Chr5:140869472 [GRCh37] Chr5:5q31.3 |
likely benign |
NM_018928.3(PCDHGC4):c.1273G>T (p.Val425Phe) | single nucleotide variant | Inborn genetic diseases [RCV004500548] | Chr5:141486446 [GRCh38] Chr5:140866013 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.422G>C (p.Arg141Pro) | single nucleotide variant | not specified [RCV004500562] | Chr5:141489662 [GRCh38] Chr5:140869229 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018912.3(PCDHGA1):c.2478C>A (p.Ser826Arg) | single nucleotide variant | not specified [RCV004498195] | Chr5:141494863 [GRCh38] Chr5:140874430 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018927.4(PCDHGB7):c.2693A>G (p.Asn898Ser) | single nucleotide variant | not specified [RCV004500530] | Chr5:141511076 [GRCh38] Chr5:140890643 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.493A>C (p.Asn165His) | single nucleotide variant | not specified [RCV004500564] | Chr5:141489733 [GRCh38] Chr5:140869300 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1317A>T (p.Arg439Ser) | single nucleotide variant | Inborn genetic diseases [RCV004500549] | Chr5:141486490 [GRCh38] Chr5:140866057 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.551C>T (p.Thr184Ile) | single nucleotide variant | not specified [RCV004500566] | Chr5:141489791 [GRCh38] Chr5:140869358 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.1327C>T (p.Leu443Phe) | single nucleotide variant | Inborn genetic diseases [RCV004500550] | Chr5:141486500 [GRCh38] Chr5:140866067 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018929.3(PCDHGC5):c.520C>T (p.Pro174Ser) | single nucleotide variant | not specified [RCV004500565] | Chr5:141489760 [GRCh38] Chr5:140869327 [GRCh37] Chr5:5q31.3 |
uncertain significance |
NM_018928.3(PCDHGC4):c.916G>T (p.Gly306Trp) | single nucleotide variant | Inborn genetic diseases [RCV004500556] | Chr5:141486089 [GRCh38] Chr5:140865656 [GRCh37] Chr5:5q31.3 |
uncertain significance |
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. |
RH91455 |
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PCDHGC4_2483 |
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PCDHGA10_7046 |
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AF022190 |
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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 | |
High | |||||||||||||||||
Medium | 1 | 1 | 1 | 10 | 1 | 518 | 1 | 15 | 1 | ||||||||
Low | 1299 | 1523 | 549 | 77 | 159 | 15 | 2100 | 1329 | 2687 | 60 | 941 | 670 | 66 | 1 | 221 | 1369 | 1 |
Below cutoff | 1012 | 980 | 1008 | 392 | 1064 | 297 | 2219 | 848 | 525 | 233 | 441 | 842 | 106 | 975 | 1410 | 3 |
RefSeq Transcripts | NG_000012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NG_050746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001386884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_032406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC005366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC008781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF152525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC042650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC101038 | (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: | ENST00000306593 ⟹ ENSP00000306918 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000610539 ⟹ ENSP00000478393 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000617094 ⟹ ENSP00000483845 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000618371 ⟹ ENSP00000478541 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001386884 ⟹ NP_001373813 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_018928 ⟹ NP_061751 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_032406 ⟹ NP_115782 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001373813 | (Get FASTA) | NCBI Sequence Viewer |
NP_061751 | (Get FASTA) | NCBI Sequence Viewer | |
NP_115782 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD43732 | (Get FASTA) | NCBI Sequence Viewer |
AAD43785 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01036 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01037 | (Get FASTA) | NCBI Sequence Viewer | |
AAI01039 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61946 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61949 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000306918 | ||
ENSP00000306918.1 | |||
ENSP00000478393.1 | |||
ENSP00000478541 | |||
ENSP00000478541.1 | |||
ENSP00000483845 | |||
ENSP00000483845.1 | |||
GenBank Protein | Q9Y5F7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061751 ⟸ NM_018928 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q495T2 (UniProtKB/Swiss-Prot), Q9Y5C3 (UniProtKB/Swiss-Prot), Q9Y5F7 (UniProtKB/Swiss-Prot), A4FU17 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_115782 ⟸ NM_032406 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | A4FU17 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000306918 ⟸ ENST00000306593 |
RefSeq Acc Id: | ENSP00000478393 ⟸ ENST00000610539 |
RefSeq Acc Id: | ENSP00000483845 ⟸ ENST00000617094 |
RefSeq Acc Id: | ENSP00000478541 ⟸ ENST00000618371 |
RefSeq Acc Id: | NP_001373813 ⟸ NM_001386884 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A087WUC2 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y5F7-F1-model_v2 | AlphaFold | Q9Y5F7 | 1-938 | view protein structure |
RGD ID: | 6871026 | ||||||||
Promoter ID: | EPDNEW_H8677 | ||||||||
Type: | initiation region | ||||||||
Name: | PCDHGC4_1 | ||||||||
Description: | protocadherin gamma subfamily C, 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:8717 | AgrOrtholog |
COSMIC | PCDHGC4 | COSMIC |
Ensembl Genes | ENSG00000242419 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000306593 | ENTREZGENE |
ENST00000306593.2 | UniProtKB/Swiss-Prot | |
ENST00000610539.1 | UniProtKB/TrEMBL | |
ENST00000617094 | ENTREZGENE | |
ENST00000617094.1 | UniProtKB/Swiss-Prot | |
ENST00000618371 | ENTREZGENE | |
ENST00000618371.4 | UniProtKB/TrEMBL | |
Gene3D-CATH | Cadherins | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000242419 | GTEx |
HGNC ID | HGNC:8717 | ENTREZGENE |
Human Proteome Map | PCDHGC4 | 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:56098 | UniProtKB/Swiss-Prot |
NCBI Gene | 56098 | ENTREZGENE |
OMIM | 606305 | OMIM |
PANTHER | CADHERIN-87A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROTOCADHERIN GAMMA-C4 | 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 | PA33065 | 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 | A0A087WU59_HUMAN | UniProtKB/TrEMBL |
A0A087WUC2 | ENTREZGENE, UniProtKB/TrEMBL | |
A4FU17 | ENTREZGENE, UniProtKB/TrEMBL | |
PCDGL_HUMAN | UniProtKB/Swiss-Prot | |
Q495T2 | ENTREZGENE | |
Q9Y5C3 | ENTREZGENE | |
Q9Y5F7 | ENTREZGENE | |
UniProt Secondary | Q495T2 | UniProtKB/Swiss-Prot |
Q9Y5C3 | UniProtKB/Swiss-Prot |