RGD:155967703 Rat Genome Database

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Variant: RGD:155967703 -  Homo sapiens

RGD ID: 155967703
ClinVar ID: CV2312753
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DMBX1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 46,976,138
GRCh38 1 46,510,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001387775.1:c.155-10A>T
NM_172225.2:c.155-10A>T
NM_001387776.1:c.160A>T
NM_147192.4:c.160A>T
More... 		11/10/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DMBX1
Accession:NM_147192
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCSFQDIILEARYGSQHRKQRRSRTAFTA
QQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDT
QLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGCKRGSPKADSPGSLTI
TPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAAAVPYLGVNMAPLGSLHCQSY
YQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASLGLDTLPN*

Gene Symbol:DMBX1
Accession:NM_001387776
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCSFQDIILEARYGSQHRKQRRSRTAFTA
QQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFKNRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDT
QLDTEQPPRLPGSDPPAELHLSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGCKRGSPKADSPGSLTI
TPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAAAVPYLGVNMAPLGSLHCQSY
YQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTSIENLRLRAKQHAASLGLDTLPN*

Gene Symbol:DMBX1
Accession:NM_172225
Location:INTRON

Gene Symbol:DMBX1
Accession:NM_001387775
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004169473 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DMBX1 CLINVAR
OMIM 607410 CLINVAR