RGD:156303126 Rat Genome Database

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Variant: RGD:156303126 -  Homo sapiens

RGD ID: 156303126
ClinVar ID: CV2308212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 158,412,745
GRCh38 2 157,556,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001111031.2:c.254C>T
NM_001111033.2:c.305-11621C>T
NM_001111032.2:c.305-5841C>T
NM_145259.3:c.404C>T
More... 		11/03/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ACVR1C
Accession:NM_145259
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNN
VTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWVCQGRQCSYRKKKRPNVEEPLSECNL
VNAGKTLKDLIYDVTASGSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQ
TVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIASGLAHLHMEIVGTQGKPAIA
HRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMAPEMLDDTMNVNIFESFKRADIYSVGLVYWE
IARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQSCEALRVMGRIMRECWYANGAARLTALRIKK
TISQLCVKEDCKA*

Gene Symbol:ACVR1C
Accession:NM_001111031
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAM
LTVWVCQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVW
HGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVA
GMIKLALSIASGLAHLHMEIVGTQGKPAIAHRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMA
PEMLDDTMNVNIFESFKRADIYSVGLVYWEIARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQS
CEALRVMGRIMRECWYANGAARLTALRIKKTISQLCVKEDCKA*

Gene Symbol:ACVR1C
Accession:NM_001111032
Location:INTRON

Gene Symbol:ACVR1C
Accession:NM_001111033
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004164713 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACVR1C CLINVAR
OMIM 608981 CLINVAR