RGD:156212390 Rat Genome Database

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Pathways
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Variant: RGD:156212390 -  Homo sapiens

RGD ID: 156212390
ClinVar ID: CV2259947
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062523  MBD2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 51,750,785
GRCh38 18 54,224,415
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003927.5:c.145G>T
NM_015832.6:c.145G>T
NG_029550.1:g.5374G>T
NC_000018.10:g.54224415C>A
More... 		12/15/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MBD2
Accession:NM_003927
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAPSPVSGLRREGARGGGRGRGRWKQAGRGGGVCGRGRGR
GRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRMDCPALPPGWK
KEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRLRNDPLNQNKGKPDLN
TTLPIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQIIKTMELPKGLQGVGPGSNDET
LLSAVASALHTSSAPITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEERVQQVRKKLEEALMADILSRAADTEE
MDIEMDSGDEA*

Gene Symbol:MBD2
Accession:NM_015832
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAPSPVSGLRREGARGGGRGRGRWKQAGRGGGVCGRGRGR
GRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRMDCPALPPGWK
KEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRLRNDPLNQNKLRWNTH
RPAPWHALSRLCLLIRCLLCLECAYPLPLHLVNSYSSKTQLHCLHLWEACPAYSRQNQSFPP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004118970 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC130062523 CLINVAR
  MBD2 CLINVAR
OMIM 603547 CLINVAR