RGD:21073573 Rat Genome Database

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Variant: RGD:21073573 -  Homo sapiens

RGD ID: 21073573
RS ID: rs372444729
ClinVar ID: CV792353
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 32,430,136
GRCh38 X 32,412,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004012.4:c.39G>A
NM_000109.4:c.4048-106G>A
NM_004009.3:c.4060-106G>A
NM_004011.4:c.49-106G>A
More... 		05/28/2019 intron variant likely benign Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DMD
Accession:NM_004012
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSARKLRNLSYKKAVRRQKLLEQSIQSAQETEKSLHLIQESLTFIDKQLAAYIADKVDAAQMPQEAQKIQSDLTSHEISL
EEMKKHNQGKEAAQRVLSQIDVAQKKLQDVSMKFRLFQKPANFEQRLQESKMILDEVKMHLPALETKSVEQEVVQSQLNH
CVNLYKSLSEVKSEVEMVIKTGRQIVQKKQTENPKELDERVTALKLHYNELGAKVTERKQQLEKCLKLSRKMRKEMNVLT
EWLAATDMELTKRSAVEGMPSNLDSEVAWGKATQKEIEKQKVHLKSITEVGEALKTVLGKKETLVEDKLSLLNSNWIAVT
SRAEEWLNLLLEYQKHMETFDQNVDHITKWIIQADTLLDESEKKKPQQKEDVLKRLKAELNDIRPKVDSTRDQAANLMAN
RGDHCRKLVEPQISELNHRFAAISHRIKTGKASIPLKELEQFNSDIQKLLEPLEAEIQQGVNLKEEDFNKDMNEDNEGTV
KELLQRGDNLQQRITDERKREEIKIKQQLLQTKHNALKDLRSQRRKKALEISHQWYQYKRQADDLLKCLDDIEKKLASLP
EPRDERKIKEIDRELQKKKEELNAVRRQAEGLSEDGAAMAVEPTQIQLSKRWREIESKFAQFRRLNFAQIHTVREETMMV
MTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPDLCAKDFEDLFKQEESLKNIKDSLQQSSGRIDIIHSKKTAALQ
SATPVERVKLQEALSQLDFQWEKVNKMYKDRQGRFDRSVEKWRRFHYDIKIFNQWLTEAEQFLRKTQIPENWEHAKYKWY
LKELQDGIGQRQTVVRTLNATGEEIIQQSSKTDASILQEKLGSLNLRWQEVCKQLSDRKKRLEEQKNILSEFQRDLNEFV
LWLEEADNIASIPLEPGKEQQLKEKLEQVKLLVEELPLRQGILKQLNETGGPVLVSAPISPEEQDKLENKLKQTNLQWIK
VSRALPEKQGEIEAQIKDLGQLEKKLEDLEEQLNHLLLWLSPIRNQLEIYNQPNQEGPFDVKETEIAVQAKQPDVEEILS
KGQHLYKEKPATQPVKRKLEDLSSEWKAVNRLLQELRAKQPDLAPGLTTIGASPTQTVTLVTQPVVTKETAISKLEMPSS
LMLEVPALADFNRAWTELTDWLSLLDQVIKSQRVMVGDLEDINEMIIKQKATMQDLEQRRPQLEELITAAQNLKNKTSNQ
EARTIITDRIERIQNQWDEVQEHLQNRRQQLNEMLKDSTQWLEAKEEAEQVLGQARAKLESWKEGPYTVDAIQKKITETK
QLAKDLRQWQTNVDVANDLALKLLRDYSADDTRKVHMITENINASWRSIHKRVSEREAALEETHRLLQQFPLDLEKFLAW
LTEAETTANVLQDATRKERLLEDSKGVKELMKQWQDLQGEIEAHTDVYHNLDENSQKILRSLEGSDDAVLLQRRLDNMNF
KWSELRKKSLNIRSHLEASSDQWKRLHLSLQELLVWLQLKDDELSRQAPIGGDFPAVQKQNDVHRAFKRELKTKEPVIMS
TLETVRIFLTEQPLEGLEKLYQEPRELPPEERAQNVTRLLRKQAEEVNTEWEKLNLHSADWQRKIDETLERLRELQEATD
ELDLKLRQAEVIKGSWQPVGDLLIDSLQDHLEKVKALRGEIAPLKENVSHVNDLARQLTTLGIQLSPYNLSTLEDLNTRW
KLLQVAVEDRVRQLHEAHRDFGPASQHFLSTSVQGPWERAISPNKVPYYINHETQTTCWDHPKMTELYQSLADLNNVRFS
AYRTAMKLRRLQKALCLDLLSLSAACDALDQHNLKQNDQPMDILQIINCLTTIYDRLEQEHNNLVNVPLCVDMCLNWLLN
VYDTGRTGRIRVLSFKTGIISLCKAHLEDKYRYLFKQVASSTGFCDQRRLGLLLHDSIQIPRQLGEVASFGGSNIEPSVR
SCFQFANNKPEIEAALFLDWMRLEPQSMVWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFNYDICQSCFFSG
RVAKGHKMHYPMVEYCTPTTSGEDVRDFAKVLKNKFRTKRYFAKHPRMGYLPVQTVLEGDNMETPVTLINFWPVDSAPAS
SPQLSHDDTHSRIEHYASRLAEMENSNGSYLNDSISPNESIDDEHLLIQHYCQSLNQDSPLSQPRSPAQILISLESEERG
ELERILADLEEENRNLQAEYDRLKQQHEHKGLSPLPSPPEMMPTSPQSPRDAELIAEAKLLRQHKGRLEARMQILEDHNK
QLESQLHRLRQLLEQPQAEAKVNGTTVSSPSTSLQRSDSSQPMLLRVVGSQTSDSMGEEDLLSPPQDTSTGLEEVMEQLN
NSFPSSRGRNTPGKPMREDTM*

Gene Symbol:DMD
Accession:XM_006724474
Location:INTRON

Gene Symbol:DMD
Accession:NM_004006
Location:INTRON

Gene Symbol:DMD
Accession:NM_004017
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724475
Location:INTRON

Gene Symbol:DMD
Accession:XM_047441889
Location:INTRON

Gene Symbol:DMD
Accession:NM_004023
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029330
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029328
Location:INTRON

Gene Symbol:DMD
Accession:NM_004018
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724473
Location:INTRON

Gene Symbol:DMD
Accession:XM_017029329
Location:INTRON

Gene Symbol:DMD
Accession:NM_004019
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724468
Location:INTRON

Gene Symbol:DMD
Accession:NM_004011
Location:INTRON

Gene Symbol:DMD
Accession:NM_004021
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724469
Location:INTRON

Gene Symbol:DMD
Accession:XM_006724470
Location:INTRON

Gene Symbol:DMD
Accession:NM_004016
Location:INTRON

Gene Symbol:DMD
Accession:NM_004009
Location:INTRON

Gene Symbol:DMD
Accession:NM_004014
Location:INTRON

Gene Symbol:DMD
Accession:NM_000109
Location:INTRON

Gene Symbol:DMD
Accession:NM_004020
Location:INTRON

Gene Symbol:DMD
Accession:NM_004013
Location:INTRON

Gene Symbol:DMD
Accession:NM_004015
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545469
Location:INTRON

Gene Symbol:DMD
Accession:NM_004010
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545468
Location:INTRON

Gene Symbol:DMD
Accession:NM_004022
Location:INTRON

Gene Symbol:DMD
Accession:XM_011545467
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000990672 CLINVAR
dbSNP (RS) rs372444729 CLINVAR
MedGen C0013264 CLINVAR
NCBI Gene DMD CLINVAR
OMIM 300377 CLINVAR
  310200 CLINVAR
SNOMED CT 76670001 CLINVAR