RGD:401897318 Rat Genome Database

RGD:401897318 Rat Genome Database

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Variant: RGD:401897318 - Homo sapiens

RGD ID:

401897318

ClinVar ID:

CV2790016

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	8	110,980,798
GRCh38	8	109,968,569

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014379.4:c.1022A>T NC_000008.11:g.109968569T>A NC_000008.10:g.110980798T>A NM_014379.2:c.1022A>T NP_055194.1:p.Gln341Leu More...	09/13/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KCNV1
Accession:	NM_014379
Location:	EXON
Amino Acid Prediction:	Q to L (nonsynonymous)
Amino Acid Position:	341

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004363972	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KCNV1	CLINVAR
OMIM	608164	CLINVAR