RGD:8555821 Rat Genome Database

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Variant: RGD:8555821 -  Homo sapiens

RGD ID: 8555821
RS ID: rs137854444
ClinVar ID: CV15820
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM83H  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 144,810,252
GRCh38 8 143,728,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016652.1:g.10663G>A
NC_000008.11:g.143728082C>T
NC_000008.10:g.144810252C>T
NM_198488.5:c.1379G>A
More... 		02/05/2020 nonsense|stop-gain pathogenic neonatal/infancy 1-9 / 100 000 AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE; AMELOGENESIS IMPERFECTA, TYPE IIIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAM83H
Accession:NM_198488
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEELEHVSRHLRPPQYVTREPPE
GSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTD
VDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYCRTGKSFKGHVKEKFLLVDCAVV
MSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQSEPLVPSAAALARMDAYALAPYAGAGPLVGVPGVGAPTPF
SFPKRAHLLFPPPREEGLGFPSFLDPDRHFLSAFRREEPPRMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQAR
HLEMDAFKRHSFATEGAGAVENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQ*DPQLTPARPQGLFEKLRGGR
AGFADPDDFTLGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDP
APEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGLPAPMEAEAYEDDVLAPGGRAPAGDLLPSAFRVPAAFPTKV
PVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLG
PGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWREEVAAPGAVGGERRSLESCLLDLRDSFAQQ
LHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQSHSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKG
SPTPGFSTRRGSPTTGFIEQKGSPTSAYPERRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPME
VLRKGSLRLRQLLSPKGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANALYSSNLRDDT
KAILEQISAHGQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLL
RRMESMRKEKRVYSRFEVFCKKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK*
Variant Samples
Additional References at PubMed
PMID:19407157  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000817 CLINVAR
dbSNP (RS) rs137854444 CLINVAR
MedGen C0399376 CLINVAR
NCBI Gene FAM83H CLINVAR
OMIM 130900 CLINVAR
  611927 CLINVAR
OMIM Allele 611927.0012 CLINVAR
SNOMED CT 109471001 CLINVAR