RGD:156125137 Rat Genome Database

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Variant: RGD:156125137 -  Homo sapiens

RGD ID: 156125137
ClinVar ID: CV2283607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130062523  MBD2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 51,750,802
GRCh38 18 54,224,432
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.128C>A
NM_015832.6:c.128C>A
NG_029550.1:g.5357C>A
NC_000018.10:g.54224432G>T
More... 		05/27/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MBD2
Accession:NM_003927
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAQSPVSGVRREGARGGGRGRGRWKQAGRGGGVCGRGRGR
GRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRMDCPALPPGWK
KEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRLRNDPLNQNKGKPDLN
TTLPIRQTASIFKQPVTKVTNHPSNKVKSDPQRMNEQPRQLFWEKRLQGLSASDVTEQIIKTMELPKGLQGVGPGSNDET
LLSAVASALHTSSAPITGQVSAAVEKNPAVWLNTSQPLCKAFIVTDEDIRKQEERVQQVRKKLEEALMADILSRAADTEE
MDIEMDSGDEA*

Gene Symbol:MBD2
Accession:NM_015832
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAHPGGGRCCPEQEEGESAAGGSGAGGDSAIEQGGQGSALAQSPVSGVRREGARGGGRGRGRWKQAGRGGGVCGRGRGR
GRGRGRGRGRGRGRGRPPSGGSGLGGDGGGCGGGGSGGGGAPRREPVPFPSGSAGPGPRGPRATESGKRMDCPALPPGWK
KEEVIRKSGLSAGKSDVYYFSPSGKKFRSKPQLARYLGNTVDLSSFDFRTGKMMPSKLQKNKQRLRNDPLNQNKLRWNTH
RPAPWHALSRLCLLIRCLLCLECAYPLPLHLVNSYSSKTQLHCLHLWEACPAYSRQNQSFPP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004140112 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC130062523 CLINVAR
  MBD2 CLINVAR
OMIM 603547 CLINVAR