RGD:405766749 Rat Genome Database

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Variant: RGD:405766749 -  Homo sapiens

RGD ID: 405766749
ClinVar ID: CV3302564
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALHM5  TRAPPC3L  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 116,837,088
GRCh38 6 116,515,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001139444.3:c.241-15259A>G
NM_153711.5:c.866T>C
NC_000006.12:g.116515925T>C
NC_000006.11:g.116837088T>C
More... 		01/03/2024 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:CALHM5
Accession:NM_153711
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAFQGILKFFLNQKTVIGYSFMALLTVGSERLFSVVAFKCPCSTENMTYGLVFLFAPAWVLLILGFFLNNRSWRLFTGC
CVNPRKIFPRGHSCRFFYVLGQITLSSLVAPVMWLSVALLNGTFYECAMSGTRSSGLLELICKGKPKECWEELHKVSCGK
TSMLPTVNEELKLSLQAQSQILGWCLICSASFFSLLTTCYARCRSKVSYLQLSFWKTYAQKEKEQLENTFLDYANKLSER
NLKCFFENKRPDPFPMPTFAAWEAASELHSFHQSQQHYSTLHRVVDNGPQLSPEDDETTMVLVGTAHNM*

Gene Symbol:TRAPPC3L
Accession:NM_001139444
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004434578 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CALHM5 CLINVAR
  TRAPPC3L CLINVAR
OMIM 614137 CLINVAR