RGD:28873899 Rat Genome Database

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Variant: RGD:28873899 -  Homo sapiens

RGD ID: 28873899
RS ID: rs781361559
ClinVar ID: CV900152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 94,777,666
GRCh38 8 93,765,438
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_688t2:c.296C>T
NM_001142301.1:c.296C>T
NM_153704.6:c.539C>T
LRG_688:g.15595C>T
More... 		04/28/2017 missense variant uncertain significance MECKEL-GRUBER SYNDROME, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM67
Accession:XM_047422409
Location:5UTRS;INTRON

Gene Symbol:TMEM67
Accession:NM_153704
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 180
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVC
LPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSF
MVVNALGDRCVRCEPTFVNISRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFS
FKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLE
YTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTV
VKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFID
WERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADT
NMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKF
LGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI*

Gene Symbol:TMEM67
Accession:NM_001142301
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLSHWPYFRLVLNFRPQVICLPQPPKVLGYRLEPPHLTLACTLEGMYNIIEEILERDINGTLLSQATCELCDGNENSFM
VVNALGDRCVRCEPTFVNISRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYA
NLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSF
KGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEY
TDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTING
NIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVV
KFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDW
ERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPP
SYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTN
MEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFL
GSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILAS
FLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI*

Gene Symbol:TMEM67
Accession:XM_006716686
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNIS
RSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYD
FATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRG
NFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQ
HNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDAN
SQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVG
TGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSA
TVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWL
AIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRG
LVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLL
LERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQK
NLASKTLVDQRFLI*

Gene Symbol:TMEM67
Accession:XR_007060762
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060760
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060763
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_928360
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_001745619
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_007060761
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:NR_024522
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XR_428387
Location:EXON;NON-CODING

Gene Symbol:TMEM67
Accession:XM_011517363
Location:INTRON

Gene Symbol:TMEM67
Accession:XM_047422410
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165115 CLINVAR
  RCV001165116 CLINVAR
  RCV001165117 CLINVAR
dbSNP (RS) rs781361559 CLINVAR
MedGen C1846357 CLINVAR
  C1853153 CLINVAR
  C3150796 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 607361 CLINVAR
  609884 CLINVAR
  610688 CLINVAR
  613550 CLINVAR