rs774409368 Rat Genome Database

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Variant: rs774409368 -  Homo sapiens

RGD ID: 40888531
RS ID: rs774409368
ClinVar ID: CV961422
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 74,128,561
GRCh38 2 73,901,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001615.4:c.123C>A
NM_001199893.2:c.123C>A
NP_001606.1:p.His41Gln
NG_034140.1:g.13469C>A
More... 		04/28/2020 missense variant uncertain significance Infantile visceral myopathy; Megaduodenum and/or megacystis; Pseudoobstruction idiopathic intestinal; Visceral myopathy

Variant Details
Variant Transcripts
Gene Symbol:ACTG2
Accession:NM_001615
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRQQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRQQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001263533 CLINVAR
dbSNP (RS) rs774409368 CLINVAR
MedGen C5542197 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR
  155310 CLINVAR