RGD:13442542 Rat Genome Database

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Variant: RGD:13442542 -  Homo sapiens

RGD ID: 13442542
RS ID: rs1555988417
ClinVar ID: CV227574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNRNPH2  RPL36A-HNRNPH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 100,667,602
GRCh38 X 101,412,614
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019597.5:c.626C>T
LRG_672:g.350G>A
NG_007119.1:g.350G>A
NM_019597.4:c.626C>T
More... 		03/12/2018 3 prime utr variant|missense variant pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199974
Location:3UTRS;EXON

Gene Symbol:RPL36A-HNRNPH2
Accession:NM_001199973
Location:3UTRS;EXON

Gene Symbol:HNRNPH2
Accession:NM_001032393
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVELESEEEVKLALKKDRETMGH
RYVEVFKSNSVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFA
SQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGLYDRPGAGRGYNSIGRGAGFERMRRGAYGGGY
GGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPMRVHIE
IGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVELFLNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGM
GLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQENSSDYQSNLA*

Gene Symbol:HNRPH2
Accession:NM_019597
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVELESEEEVKLALKKDRETMGH
RYVEVFKSNSVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFA
SQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGLYDRPGAGRGYNSIGRGAGFERMRRGAYGGGY
GGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPMRVHIE
IGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVELFLNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGM
GLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQENSSDYQSNLA*
Variant Samples
Additional References at PubMed
PMID:27545675  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000509014 CLINVAR
  RCV000509057 CLINVAR
dbSNP (RS) rs1555988417 CLINVAR
MedGen C4310814 CLINVAR
  CN517202 CLINVAR
NCBI Gene HNRNPH2 CLINVAR
  RPL36A-HNRNPH2 CLINVAR
OMIM 300610 CLINVAR
  300986 CLINVAR
OMIM Allele 300610.0003 CLINVAR