RGD:150416397 Rat Genome Database

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Variant: RGD:150416397 -  Homo sapiens

RGD ID: 150416397
RS ID: rs6244
ClinVar ID: CV1198360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTHLH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 28,116,062
GRCh38 12 27,963,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.27963129G>A
NC_000012.11:g.28116062G>A
NM_002820.3:c.*215C>T
NM_198964.2:c.*215C>T
More... 		10/16/2018 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PTHLH
Accession:NM_198964
Location:3UTRS;EXON

Gene Symbol:PTHLH
Accession:NM_002820
Location:3UTRS;EXON

Gene Symbol:PTHLH
Accession:XM_017019675
Location:INTRON

Gene Symbol:PTHLH
Accession:XM_047429178
Location:INTRON

Gene Symbol:PTHLH
Accession:NM_198965
Location:INTRON

Gene Symbol:PTHLH
Accession:XM_047429179
Location:INTRON

Gene Symbol:PTHLH
Accession:NM_198966
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001575832 CLINVAR
dbSNP (RS) rs6244 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PTHLH CLINVAR
OMIM 168470 CLINVAR