RGD:12838066 Rat Genome Database

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Variant: RGD:12838066 -  Homo sapiens

RGD ID: 12838066
RS ID: rs1057519875
ClinVar ID: CV363243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACVR1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 158,626,897
GRCh38 2 157,770,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008004.1:g.109727G>T
NC_000002.12:g.157770385C>A
NC_000002.11:g.158626897C>A
NP_001096.1:p.Arg258Met
More... 		05/31/2016 missense variant likely pathogenic Adenocarcinoma of stomach
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ACVR1
Accession:NM_001105
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001347664
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001347666
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001347665
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001347667
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001111067
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*

Gene Symbol:ACVR1
Accession:NM_001347663
Location:EXON
Amino Acid Prediction: R to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDGVMILPVLIMIALPSPSMEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSINDGFHVYQKGCFQVYEQGKMT
CKTPPSPGQAVECCQGDWCNRNITAQLPTKGKSFPGTQNFHLEVGLIILSVVFAVCLLACLLGVALRKFKRRNQERLNPR
DVEYGTIEGLITTNVGDSTLADLLDHSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGSWQGENVAVKIFSSR
DEKSWFRETELYNTVMLMHENILGFIASDMTSRHSSTQLWLITHYHEMGSLYDYLQLTTLDTVSCLRIVLSIASGLAHLH
IEIFGTQGKPAIAHRDLKSKNILVKKNGQCCIADLGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDCFDSYK
RVDIWAFGLVLWEVARRMVSNGIVEDYKPPFYDVVPNDPSFEDMRKVVCVDQQRPNIPNRWFSDPTLTSLAKLMKECWYQ
NPSARLTALRIKKTLTKIDNSLDKLKTDC*
Variant Samples
Additional References at PubMed
PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000426291 CLINVAR
  RCV000444963 CLINVAR
dbSNP (RS) rs1057519875 CLINVAR
MedGen C0278701 CLINVAR
  C0677865 CLINVAR
NCBI Gene ACVR1 CLINVAR
OMIM 102576 CLINVAR