RGD:11655837 Rat Genome Database

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Summary

Variant: RGD:11655837 - Homo sapiens

RGD ID:

11655837

ClinVar ID:

CV283687

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127275232

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	172,750,779
GRCh38	2	171,894,269

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011781.1:g.5035C>T NC_000002.12:g.171894269G>A NC_000002.11:g.172750779G>A NR_047549.1:n.38C>T More...	06/14/2016	5 prime utr variant\|non-coding transcript variant	uncertain significance	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39

Variant Details

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.