RGD:151728342 Rat Genome Database

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Variant: RGD:151728342 -  Homo sapiens

RGD ID: 151728342
RS ID: rs765478385
ClinVar ID: CV1335168
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 24,730,997
GRCh38 14 24,261,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000359.3:c.412G>A
NG_007150.2:g.6376G>A
NC_000014.9:g.24261791C>T
NC_000014.8:g.24730997C>T
More... 		02/18/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TGM1
Accession:NM_000359
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRGRGSSSGTRRP
GSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDKLIVRRGQPFHMLLLLSRTYESS
DRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVN
VSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTN
FNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETA
AAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAP
GASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAG
GDSHLGETIPMASRGGA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001844487 CLINVAR
dbSNP (RS) rs765478385 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TGM1 CLINVAR
OMIM 190195 CLINVAR