RGD:156137296 Rat Genome Database

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Pathways
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Variant: RGD:156137296 -  Homo sapiens

RGD ID: 156137296
ClinVar ID: CV2239855
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERICH6  ERICH6-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 150,421,649
GRCh38 3 150,703,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308234.2:c.-98C>A
NM_152394.5:c.37C>A
NC_000003.12:g.150703862G>T
NC_000003.11:g.150421649G>T
More... 		10/18/2021 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ERICH6
Accession:NM_001308234
Location:5UTRS;EXON

Gene Symbol:ERICH6
Accession:NM_152394
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHLRSPSGFGDSGKKDQKESEEELEEEEEEEEVEEEEEEVEEEEEEVEEEEEEVVEEELVGEEQELEAPETFSEEYLWK
VTDIGDYDDDFPDVRPRLASIVSPSLTSTFVPSQSATSTETPSASPPSSTSSHKSFPKIFQTFRKDMSEMSIDRNIHRNL
SPGIPVSVQTEESWLQDLSDKVQSRKKASKEKAEPECLASKLREKWVINPEESKLNILYELEFKEDFITLFEPSLRTLPS
IGPPSILAYKEESSNLGINFKDEEEETSPKCEFCGSDLRAFFSNVDVSSEPKGHASCCIAFQNLIDYIYEEQIKTKPPKA
ELIAIDPHAAHGSEVDRLKAKEKALQRKQEQRMARHFAIISREQTHFSEDDSKRLKTISYQLSVDIPEKQIIDDIVFDFQ
LRNSNMSIICCDSRIACGKVVRNELLEKHYKHGSKFLTSFPDGTTQIFYPSGNLAIIRVPNKVNGFTCIVQEDMPTNPAI
LAVLDSSGRSSCYHPNGNVWVYINILGGQYSDQAGNRIRAWNWSNSITSSPFVSFKPVFLALNRYIGVRILEQDKISITF
LAMGQQARISVGTKVKLPNPEEIPILRYVSGDDLLLLASLIKIRRLFHKLEGCVNFPSSQVWEKLKQPSYLSSLSLKLIA
LCHSSGIKQDIMKTIRNIINEEI*

Gene Symbol:ERICH6
Accession:XM_005247120
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHLRSPSGFGDSGKKDQKESEEELEEEEEEEEVEEEEEEVEEEEEEVEEEEEEVVEEELVGEEQELEAPETFSEEYLWK
VTDIGDYDDDFPDVRPRLASIVSPSLTSTFVPSQSATSTETPSASPPSSTSSHKSFPKIFQTFRKDMSEMSIDRNIHRNL
SPGIPVSVQTEESWLQDLSDKVQSRKKASKEKAEPECLASKLREKWVINPEESKLNILYELEFKEDFITLFEPSLRTLPS
IGPPSILAYKEESSNLGINFKDEEEETSPKCEFCGSDLRAFFSNVDVSSEPKGHASCCIAFQNLIDYIYEEQIKTKPPKA
ELIAIDPHAAHGSEVDRLKAKEKALQRKQEQRMARHFAIISREQTHFSEDDSKRLKTISYQLSVDIPEKQIIDDIVFDFQ
LRNSNMSIICCDSRIACGKVVRNELLEKHYKHGSKFLTSFPDGTTQIFYPSGNLAIIRVPNKVNGFTCIVQEDMPTNPAI
LAVLDSSGRSSCYHPNGNVCYQTLRRFQSSDT*

Gene Symbol:ERICH6-AS1
Accession:NR_121675
Location:INTRON;NON-CODING

Gene Symbol:ERICH6-AS1
Accession:NR_121674
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004108369 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ERICH6 CLINVAR
  ERICH6-AS1 CLINVAR
  LOC129937758 CLINVAR