RGD:10767032 Rat Genome Database

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Variant: RGD:10767032 -  Homo sapiens

RGD ID: 10767032
RS ID: rs138783896
ClinVar ID: CV221800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM67  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 94,777,644
GRCh38 8 93,765,416
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
NM_153704.6:c.517T>C
NR_024522.2:n.538T>C
NP_714915.3:p.Cys173Arg
NP_714915.3:p.Cys173Arg
More... 		06/06/2023 missense variant pathogenic|likely pathogenic|uncertain significance antenatal 1-9 / 100 000 Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome
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_001142301
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLSHWPYFRLVLNFRPQVICLPQPPKVLGYRLEPPHLTLACTLEGMYNIIEEILERDINGTLLSQATCELCDGNENSFM
VVNALGDRCVRREPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYA
NLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSF
KGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEY
TDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTING
NIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVV
KFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDW
ERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPP
SYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTN
MEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFL
GSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILAS
FLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI*

Gene Symbol:TMEM67
Accession:XM_006716686
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRREPTFVNTS
RSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYD
FATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRG
NFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQ
HNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDAN
SQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVG
TGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRSA
TVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPYSCILRYAVSAALWL
AIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRG
LVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLL
LERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQK
NLASKTLVDQRFLI*

Gene Symbol:TMEM67
Accession:NM_153704
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISALSCVPCGANQRQDARGTSCVC
LPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSF
MVVNALGDRCVRREPTFVNTSRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFS
FKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLE
YTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWKRRIGSPMIDLQTV
VKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFID
WERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADT
NMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKF
LGSFIDHVHKEMDYFIKDKLLLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI*

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

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

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

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

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

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

Gene Symbol:TMEM67
Accession:XR_007060760
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 References at PubMed
PMID:25741868   PMID:28492532   PMID:30455918   PMID:33532864  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000204053 CLINVAR
  RCV001281327 CLINVAR
dbSNP (RS) rs138783896 CLINVAR
MedGen C0431399 CLINVAR
  C3150796 CLINVAR
NCBI Gene TMEM67 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  609884 CLINVAR
  613550 CLINVAR
SNOMED CT 253175003 CLINVAR