RGD:11601916 Rat Genome Database

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Variant: RGD:11601916 -  Homo sapiens

RGD ID: 11601916
RS ID: rs569786610
ClinVar ID: CV308744
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DSP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 7,580,494
GRCh38 6 7,580,261
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_423:g.43625G>C
NG_008803.1:g.43625G>C
NC_000006.12:g.7580261G>C
NC_000006.11:g.7580494G>C
More... 		12/05/2018 intron variant likely benign|uncertain significance childhood|infancy|neonatal <1 / 1 000 000 Arrhythmogenic cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic right ventricular dysplasia 8; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8; Cardiomyopathies; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; KERATODERMA, PALMOPLANTAR, STRIATE FORM II; Keratosis palmoplantaris striata 2; Keratosis palmoplantaris striata II; Lethal acantholytic epidermolysis bullosa; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; STRIATE PALMOPLANTAR KERATODERMA II; Woolly hair-skin fragility syndrome
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:DSP
Accession:NM_004415
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 1357
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTGTMSRHQNQNTIQELLQNCSD
CLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEILDSLIREMRQMGQPCDAYQKRLLQLQEQMRALYKAISVPR
VRRASSKGGGGYTCQSGSGWDEFTKHVTSECLGWMRQQRAEMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKA
DLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSDKNTNIAQKQEAFSIRMSQLE
VKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSWILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIR
KKYPCDKNMPLQHLLEQIKELEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGD
ECILKDNNERSKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQLYINMKSLVSWHYCMIDIEKI
RAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMFGDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEI
THHGTCQDVNHNKVIETNRENDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSHHITVKINELKSVQNDSQAIA
EVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQTEDMLKVYEARLTEEETVCLD
LDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHSQTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWD
LEKQIKQLRNYRDNYQAFCKWLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKD
YELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEMLKSLEDLKLKNTKIEVLEEE
LRLARDANSENCNKNKFLDQNLQKYQAECSQFKAKLASLEELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIED
EKRRRKSVEDRFDQQKNDYDQLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSILQATEQRRRAEENALQQKAC
GSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTIQDKNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDDEII
SLKNQFETEINITKTTIHQLTMQKEEDTSGYRAQIDNLTRENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEV
SQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCLEDENARLQRVQYDLQKANSS
ATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQNSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEG
MRRSLKEQAIKITNLTQQLEQASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL
RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSEADSDKNATILELRSQLQISN
NRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQESKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAK
STLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDS
TRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLLKGKKS
VEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDF
DDRQQIYAAEKAITGFDDPFSGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYR
SLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQ
ISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGL
VGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNTLRKRRVVIVDPETNKEMSVQ
EAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADM
ISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERG
IVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKEKWLPY
EAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGL
RLLEAASVSSKGLPSPYNMSSAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH*

Gene Symbol:DSP
Accession:NM_001319034
Location:INTRON

Gene Symbol:DSP
Accession:NM_001008844
Location:INTRON

Gene Symbol:DSP
Accession:NM_001406591
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26585738   PMID:28492532   PMID:30615648  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000286226 CLINVAR
  RCV000343529 CLINVAR
  RCV000377193 CLINVAR
  RCV001187919 CLINVAR
  RCV001850912 CLINVAR
  RCV002480239 CLINVAR
dbSNP (RS) rs569786610 CLINVAR
MedGen C0878544 CLINVAR
  C1843292 CLINVAR
  C1843896 CLINVAR
  C1854063 CLINVAR
  C1864826 CLINVAR
NCBI Gene DSP CLINVAR
OMIM 125647 CLINVAR
  605676 CLINVAR
  607450 CLINVAR
  609638 CLINVAR
  612908 CLINVAR
  615821 CLINVAR
  620415 CLINVAR
SNOMED CT 85898001 CLINVAR