RGD:40904551 Rat Genome Database

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Variant: RGD:40904551 -  Homo sapiens

RGD ID: 40904551
RS ID: rs1483848337
ClinVar ID: CV979504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 24,731,059
GRCh38 14 24,261,853
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.350T>C
NC_000014.8:g.24731059A>G
NP_000350.1:p.Leu117Ser
NC_000014.9:g.24261853A>G
More... 		04/19/2020 missense variant uncertain significance Collodion fetus; Desquamation of newborn; Ichthyosis congenita; ICHTHYOSIS CONGENITA II; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION; ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT BATHING SUIT DISTRIBUTION; Lamellar exfoliation of newborn; Lamellar ichthyosis, type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGM1
Accession:NM_000359
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRGRGSSSGTRRP
GSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDSLSSRSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESS
DRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVN
VSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTN
FNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETA
AAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAP
GASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAG
GDSHLGETIPMASRGGA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001277601 CLINVAR
dbSNP (RS) rs1483848337 CLINVAR
MedGen C4551630 CLINVAR
NCBI Gene TGM1 CLINVAR
OMIM 190195 CLINVAR
  242300 CLINVAR