RGD:15180708 Rat Genome Database

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Variant: RGD:15180708 -  Homo sapiens

RGD ID: 15180708
RS ID: rs372313061
ClinVar ID: CV719328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1C  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 158,395,091
GRCh38 2 157,538,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145259.2:c.1350T>C
NP_001104503.1:p.Ser293=
NP_001104502.1:p.Ser370=
NP_001104501.1:p.Ser400=
More...
11/09/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ACVR1C
Accession:NM_001111033
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNN
VTKTECCFTDFCNNITLHLPTDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIASGLAHLHMEIVGTQGKP
AIAHRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMAPEMLDDTMNVNIFESFKRADIYSVGLV
YWEIARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQSCEALRVMGRIMRECWYANGAARLTALR
IKKTISQLCVKEDCKA*

Gene Symbol:ACVR1C
Accession:NM_001111032
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNN
VTKTECCFTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQ
TVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIASGLAHLHMEIVGTQGKPAIA
HRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMAPEMLDDTMNVNIFESFKRADIYSVGLVYWE
IARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQSCEALRVMGRIMRECWYANGAARLTALRIKK
TISQLCVKEDCKA*

Gene Symbol:ACVR1C
Accession:NM_145259
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNN
VTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNL
VNAGKTLKDLIYDVTASGSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQ
TVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIASGLAHLHMEIVGTQGKPAIA
HRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMAPEMLDDTMNVNIFESFKRADIYSVGLVYWE
IARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQSCEALRVMGRIMRECWYANGAARLTALRIKK
TISQLCVKEDCKA*

Gene Symbol:ACVR1C
Accession:NM_001111031
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAM
LTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVW
HGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVA
GMIKLALSIASGLAHLHMEIVGTQGKPAIAHRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMA
PEMLDDTMNVNIFESFKRADIYSVGLVYWEIARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQS
CEALRVMGRIMRECWYANGAARLTALRIKKTISQLCVKEDCKA*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000885592 CLINVAR
dbSNP (RS) rs372313061 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ACVR1C CLINVAR
OMIM 608981 CLINVAR