RGD:8698350 Rat Genome Database

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Variant: RGD:8698350 -  Homo sapiens

RGD ID: 8698350
RS ID: rs587782685
ClinVar ID: CV152454
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 37,034,778
GRCh38 3 36,993,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.-261G>A
LRG_216:g.4938G>A
NG_007109.2:g.4938G>A
NC_000003.12:g.36993287G>A
More... 		10/20/2017 2kb upstream variant|5 prime utr variant|upstream transcript variant uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000132114 CLINVAR
dbSNP (RS) rs587782685 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
SNOMED CT 699346009 CLINVAR