RGD:405788003 Rat Genome Database

RGD:405788003 Rat Genome Database

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Variant: RGD:405788003 - Homo sapiens

RGD ID:

405788003

ClinVar ID:

CV3265083

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNV1 LOC127460139

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	8	110,986,605
GRCh38	8	109,974,376

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014379.4:c.13G>A NG_114908.1:g.217C>T NC_000008.11:g.109974376C>T NC_000008.10:g.110986605C>T More...	02/12/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KCNV1
Accession:	NM_014379
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	5

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSSSRALLDSPLDSGSLTSLDSSVFCSEGEGEPLALGDCFTVNVGGSRFVLSQQALSCFPHTRLGKLAVVVASYRRPGA LAAVPSPLELCDDANPVDNEYFFDRSSQAFRYVLHYYRTGRLHVMEQLCALSFLQEIQYWGIDELSIDSCCRDRYFRRKE LSETLDFKKDTEDQESQHESEQDFSQGPCPTVRQKLWNILEKPGSSTAARIFGVISIIFVVVSIINMALMSAELSWLDLQ LLEILEYVCISWFTGEFVLRFLCVRDRCRFLRKVPNIIDLLAILPFYITLLVESLSGSQTTQELENVGRIVQVLRLLRAL RMLKLGRHSTGLRSLGMTITQCYEEVGLLLLFLSVGISIFSTVEYFAEQSIPDTTFTSVPCAWWWATTSMTTVGYGDIRP DTTTGKIVAFMCILSGILVLALPIAIINDRFSACYFTLKLKEAAVRQREALKKLTKNIATDSYISVNLRDVYARSIMEML RLKGRERASTRSSGGDDFWF*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004398911	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KCNV1	CLINVAR
OMIM	608164	CLINVAR