RGD:14707286 Rat Genome Database

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Variant: RGD:14707286 -  Homo sapiens

RGD ID: 14707286
RS ID: rs2287392
ClinVar ID: CV666673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,767,382
GRCh38 14 77,301,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013382.7:c.816+51T>C
NG_008897.1:g.24844T>C
NC_000014.9:g.77301039A>G
LRG_844t1:c.816+51T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:XM_047431320
Location:5UTRS;INTRON

Gene Symbol:POMT2
Accession:XM_047431319
Location:5UTRS;INTRON

Gene Symbol:POMT2
Accession:XM_011536677
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536675
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431314
Location:INTRON

Gene Symbol:POMT2
Accession:NM_013382
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431317
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431312
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431316
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431313
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431318
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000826791 CLINVAR
dbSNP (RS) rs2287392 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR