RGD:405766729 Rat Genome Database

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Variant: RGD:405766729 -  Homo sapiens

RGD ID: 405766729
ClinVar ID: CV3302560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALHM5  TRAPPC3L  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 116,836,794
GRCh38 6 116,515,631
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001139444.3:c.241-14965G>C
NM_153711.5:c.572C>G
NC_000006.12:g.116515631C>G
NC_000006.11:g.116836794C>G
More... 		12/21/2022 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:CALHM5
Accession:NM_153711
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAFQGILKFFLNQKTVIGYSFMALLTVGSERLFSVVAFKCPCSTENMTYGLVFLFAPAWVLLILGFFLNNRSWRLFTGC
CVNPRKIFPRGHSCRFFYVLGQITLSSLVAPVMWLSVALLNGTFYECAMSGTRSSGLLELICKGKPKECWEELHKVSCGK
TSMLPTVNEELKLSLQAQSQILGWCLICSACFFSLLTTCYARCRSKVSYLQLSFWKTYAQKEKEQLENTFLDYANKLSER
NLKCFFENKRPDPFPMPTFAAWEAASELHSFHQSQQHYSTLHRVVDNGLQLSPEDDETTMVLVGTAHNM*

Gene Symbol:TRAPPC3L
Accession:NM_001139444
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004434574 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CALHM5 CLINVAR
  TRAPPC3L CLINVAR
OMIM 614137 CLINVAR