RGD:401896898 Rat Genome Database

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Variant: RGD:401896898 -  Homo sapiens

RGD ID: 401896898
ClinVar ID: CV2785408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAF1  SAMD4B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 39,876,762
GRCh38 19 39,386,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256826.2:c.1251G>A
NM_019088.4:c.1465G>A
NC_000019.10:g.39386122C>T
NC_000019.9:g.39876762C>T
More... 		08/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PAF1
Accession:NM_001256826
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPTIQTQAQREDGHRSGVVCRVKYCNSLPDIPFDPKFITYPFDQNRFVQYKATSLEKQHKHDLLTEPDLGVTIDLINPD
TYRIDPNVLLDPADEKLLEEEIQAPTSSKRSQQHAKVVPWMRKTEYISTEFNRYGISNEKPEVKIGVSVKQQFTEEEIYK
DRDSQITAIEKTFEDAQKSISQHYSKPRVTPVEVMPVFPDFKMWINPCAQVIFDSDPAPKDTSGAAALEMMSQAMIRGMM
DEEGNQFVAYFLPVEETLKKRKRDQEEEMDYAPDDVYDYKIAREYNWNVKNKASKGYEENYFFIFREGDGVYYNELETRV
RLSKRRAKAGVQSGTNALLVVKHRDMNEKELEAQEARKAQLENHEPEEEEEEEMETEEKEAGGSVMLILRTMPTLMMRTE
DRPKVAVTMIQTAAAMGVASGAGATAAAPVPSPVAASTRPRRMAVKLQLLIPVKLIVTVTESQGIQGWFRHHYCEQQSTF
LVVCL*

Gene Symbol:PAF1
Accession:NM_019088
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 489
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPTIQTQAQREDGHRPNSHRTLPERSGVVCRVKYCNSLPDIPFDPKFITYPFDQNRFVQYKATSLEKQHKHDLLTEPDL
GVTIDLINPDTYRIDPNVLLDPADEKLLEEEIQAPTSSKRSQQHAKVVPWMRKTEYISTEFNRYGISNEKPEVKIGVSVK
QQFTEEEIYKDRDSQITAIEKTFEDAQKSISQHYSKPRVTPVEVMPVFPDFKMWINPCAQVIFDSDPAPKDTSGAAALEM
MSQAMIRGMMDEEGNQFVAYFLPVEETLKKRKRDQEEEMDYAPDDVYDYKIAREYNWNVKNKASKGYEENYFFIFREGDG
VYYNELETRVRLSKRRAKAGVQSGTNALLVVKHRDMNEKELEAQEARKAQLENHEPEEEEEEEMETEEKEAGGSDEEQEK
GSSSEKEGSEDEHSGSESEREEGDRDEASDKSGSGEDESSEDEARAARDKEEIFGSDADSEDDADSDDEDRGQAQGGSDN
DSDSGSNGCGQRSRSHSRSASPFPSGSEHSAQEDGSEAAASDSSEADSDSD*

Gene Symbol:PAF1
Accession:NR_046384
Location:EXON;NON-CODING

Gene Symbol:SAMD4B
Accession:XM_011527060
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384588
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_011527062
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384590
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384565
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439028
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384586
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384580
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439032
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384591
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384574
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439029
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439036
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384587
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439030
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384570
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384589
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384592
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384566
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384585
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384578
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384575
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384569
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439027
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384568
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384581
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384584
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384577
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439035
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_011527057
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384571
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384595
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001303614
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_017026919
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384593
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384583
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439031
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_018028
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384582
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384594
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384573
Location:INTRON

Gene Symbol:SAMD4B
Accession:NM_001384576
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439034
Location:INTRON

Gene Symbol:SAMD4B
Accession:XM_047439033
Location:INTRON

Gene Symbol:SAMD4B
Accession:NR_169271
Location:INTRON;NON-CODING

Gene Symbol:SAMD4B
Accession:NR_169274
Location:INTRON;NON-CODING

Gene Symbol:SAMD4B
Accession:NR_169272
Location:INTRON;NON-CODING

Gene Symbol:SAMD4B
Accession:NR_169273
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004362955 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PAF1 CLINVAR
  SAMD4B CLINVAR
OMIM 610506 CLINVAR
  619231 CLINVAR