RGD:329391536 Rat Genome Database

RGD:329391536 Rat Genome Database

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Variant: RGD:329391536 - Homo sapiens

RGD ID:

329391536

ClinVar ID:

CV2448672

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CALHM5 TRAPPC3L

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	6	116,837,082
GRCh38	6	116,515,919

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001139444.3:c.241-15253T>C NM_153711.5:c.860A>G NC_000006.12:g.116515919A>G NC_000006.11:g.116837082A>G More...	01/23/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CALHM5
Accession:	NM_153711
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	287

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDAFQGILKFFLNQKTVIGYSFMALLTVGSERLFSVVAFKCPCSTENMTYGLVFLFAPAWVLLILGFFLNNRSWRLFTGC CVNPRKIFPRGHSCRFFYVLGQITLSSLVAPVMWLSVALLNGTFYECAMSGTRSSGLLELICKGKPKECWEELHKVSCGK TSMLPTVNEELKLSLQAQSQILGWCLICSASFFSLLTTCYARCRSKVSYLQLSFWKTYAQKEKEQLENTFLDYANKLSER NLKCFFENKRPDPFPMPTFAAWEAASELHSFHQSQQHYSTLHRVVDSGLQLSPEDDETTMVLVGTAHNM*

Gene Symbol:	TRAPPC3L
Accession:	NM_001139444
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004259338	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CALHM5	CLINVAR
	TRAPPC3L	CLINVAR
OMIM	614137	CLINVAR