RGD:127261694 Rat Genome Database

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Variant: RGD:127261694 -  Homo sapiens

RGD ID: 127261694
RS ID: rs2040818118
ClinVar ID: CV1063079
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 24,731,348
GRCh38 14 24,262,142
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.211C>T
NG_007150.2:g.6025C>T
NC_000014.9:g.24262142G>A
NC_000014.8:g.24731348G>A
More... 		09/24/2020 nonsense pathogenic 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGM1
Accession:NM_000359
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMDGPRSDVGRWGGNPLQPPTTPSPEPEPEPDGRSRRGGGRSFWARCCGCCSCRNAADDDWGPEPSDSRG*GSSSGTRRP
GSRGSDSRRPVSRGSGVNAAGDGTIREGMLVVNGVDLLSSRSDQNRREHHTDEYEYDELIVRRGQPFHMLLLLSRTYESS
DRITLELLIGNNPEVGKGTHVIIPVGKGGSGGWKAQVVKASGQNLNLRVHTSPNAIIGKFQFTVRTQSDAGEFQLPFDPR
NEIYILFNPWCPEDIVYVDHEDWRQEYVLNESGRIYYGTEAQIGERTWNYGQFDHGVLDACLYILDRRGMPYGGRGDPVN
VSRVISAMVNSLDDNGVLIGNWSGDYSRGTNPSAWVGSVEILLSYLRTGYSVPYGQCWVFAGVTTTVLRCLGLATRTVTN
FNSAHDTDTSLTMDIYFDENMKPLEHLNHDSVWNFHVWNDCWMKRPDLPSGFDGWQVVDATPQETSSGIFCCGPCSVESI
KNGLVYMKYDTPFIFAEVNSDKVYWQRQDDGSFKIVYVEEKAIGTLIVTKAISSNMREDITYLYKHPEGSDAERKAVETA
AAHGSKPNVYANRGSAEDVAMQVEAQDAVMGQDLMVSVMLINHSSSRRTVKLHLYLSVTFYTGVSGTIFKETKKEVELAP
GASDRVTMPVAYKEYRPHLVDQGAMLLNVSGHVKESGQVLAKQHTFRLRTPDLSLTLLGAAVVGQECEVQIVFKNPLPVT
LTNVVFRLEGSGLQRPKILNVGDIGGNETVTLRQSFVPVRPGPRQLIASLDSPQLSQVHGVIQVDVAPAPGDGGFFSDAG
GDSHLGETIPMASRGGA*
Variant Samples
Additional References at PubMed
PMID:18948357   PMID:19241467   PMID:25741868   PMID:25808943   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001387569 CLINVAR
  RCV003473981 CLINVAR
dbSNP (RS) rs2040818118 CLINVAR
MedGen C3661900 CLINVAR
  C4551630 CLINVAR
NCBI Gene TGM1 CLINVAR
OMIM 190195 CLINVAR
  242300 CLINVAR