RGD:150404317 Rat Genome Database

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Variant: RGD:150404317 -  Homo sapiens

RGD ID: 150404317
RS ID: rs113610213
ClinVar ID: CV1194879
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 77,771,236
GRCh38 14 77,304,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008897.1:g.20990G>A
NC_000014.9:g.77304893C>T
NC_000014.8:g.77771236C>T
NM_013382.7:c.439-93G>A
More... 		12/24/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:XM_047431317
Location:5UTRS;INTRON

Gene Symbol:POMT2
Accession:XM_047431320
Location:5UTRS;INTRON

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

Gene Symbol:POMT2
Accession:XM_047431318
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536675
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431312
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431313
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431314
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431316
Location:INTRON

Gene Symbol:POMT2
Accession:NM_013382
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536677
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001571047 CLINVAR
dbSNP (RS) rs113610213 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR