RGD:156255548 Rat Genome Database

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Variant: RGD:156255548 -  Homo sapiens

RGD ID: 156255548
ClinVar ID: CV2229306
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADAM18  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 39,494,825
GRCh38 8 39,637,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320313.2:c.589-231A>G
NM_014237.3:c.631A>G
NC_000008.11:g.39637306A>G
NC_000008.10:g.39494825A>G
More... 		08/02/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADAM18
Accession:NM_014237
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLLLALLTELGRLQAHEGSEGIFLHVTVPRKIKSNDSEVSERKMIYIITIDGQPYTLHLGKQSFLPQNFLVYTYNETGS
LHSVSPYFMMHCHYQGYAAEFPNSFVTLSICSGLRGFLQFENISYGIEPVESSARFEHIIYQMKNNDPNVSILAVNYSHI
WQKDQPYKVPLNSQIKNLSKLLPQYLEIYIIVEKALYDYMGSEMMAVTQKVVQVIGLVNTMFTQFKLTVILSSLELWSNE
NQISTSGDADDILQRFLAWKRDYLILRPHDIAYLLVYRKHPKYVGATFPGTVCNKSYDAGIAMYPDAIGLEGFSVIIAQL
LGLNVGLTYDDITQCFCLRATCIMNHEAVSASGRKIFSNCSMHDYRYFVSKFETKCLQKLSNLQPLHQNQPVCGNGILES
NEECDCGNKNECQFKKCCDYNTCKLKGSVKCGSGPCCTSKCELSIAGTPCRKSIDPECDFTEYCNGTSSNCVPDTYALNG
RLCKLGTAYCYNGQCQTTDNQCAKIFGKGAQGAPFACFKEVNSLHERSENCGFKNSQPLPCERKDVLCGKLACVQPHKNA
NKSDAQSTVYSYIQDHVCVSIATGSSMRSDGTDNAYVADGTMCGPEMYCVNKTCRKVHLMGYNCNATTKCKGKGICNNFG
NCQCFPGHRPPDCKFQFGSPGGSIDDGNFQKSGDFYTEKGYNTHWNNWFILSFCIFLPFFIVFTTVIFKRNEISKSCNRE
NAEYNRNSSVVSESDDVGH*

Gene Symbol:ADAM18
Accession:NR_135201
Location:EXON;NON-CODING

Gene Symbol:ADAM18
Accession:NM_001190956
Location:INTRON

Gene Symbol:ADAM18
Accession:NM_001320313
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002714241 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ADAM18 CLINVAR
OMIM 619495 CLINVAR