RGD:405238888 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405238888 -  Homo sapiens

RGD ID: 405238888
ClinVar ID: CV3081438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,620,671
GRCh38 9 134,728,825
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_737t2:c.924+18G>C
NM_000093.5:c.924+18G>C
NM_001278074.1:c.924+18G>C
LRG_737:g.92020G>C
More...
03/20/2023 intron variant likely benign none provided

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003736503 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL5A1 CLINVAR
OMIM 120215 CLINVAR