RGD:329394174 Rat Genome Database

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Variant: RGD:329394174 -  Homo sapiens

RGD ID: 329394174
ClinVar ID: CV2450125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARMC7  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 73,125,001
GRCh38 17 75,128,906
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304271.2:c.*89G>C
NM_024585.4:c.465G>C
NC_000017.11:g.75128906G>C
NC_000017.10:g.73125001G>C
More... 		01/18/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ARMC7
Accession:NM_001304271
Location:3UTRS;EXON

Gene Symbol:ARMC7
Accession:NM_024585
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQKPKVDPHVGRLGYLQALVTEFQETQSQDAKEQVLANLANFAYDPSNYEYLRQLQVLDLFLDSLSEENETLVEFAIGG
LCNLCPDRANKEHILHAGGVPLIINCLSSPNEETVLSAITTLMHLSPPGRSFLPELTATPVVQCMLRFSLSASASLRNLA
QIFLEDFCSPRQVAEARSRQAHSALGIPLPRSVAPRQR*

Gene Symbol:ARMC7
Accession:NM_001304273
Location:INTRON

Gene Symbol:ARMC7
Accession:NM_001304272
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004270951 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARMC7 CLINVAR