RGD:127266953 Rat Genome Database

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Variant: RGD:127266953 -  Homo sapiens

RGD ID: 127266953
RS ID: rs2115396414
ClinVar ID: CV1061059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWIST1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 19,156,358
GRCh38 7 19,116,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000474.4:c.587G>A
NG_008114.2:g.5938G>A
NC_000007.14:g.19116735C>T
NC_000007.13:g.19156358C>T
More... 		06/05/2020 non-coding transcript variant pathogenic Acrocephalo-syndactyly, type 3; Acrocephaly, skull asymmetry, and mild syndactyly; ACS 3; ACS III; Chotzen syndrome; Craniosynostosis 1; Saethre-Chotzen syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TWIST1
Accession:NM_000474
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAG
CGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLY
QVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGA*SMSASH*

Gene Symbol:TWIST1
Accession:NR_149001
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10749989   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001388848 CLINVAR
dbSNP (RS) rs2115396414 CLINVAR
MedGen C4551902 CLINVAR
NCBI Gene LOC129998021 CLINVAR
  TWIST1 CLINVAR
OMIM 101400 CLINVAR
  123100 CLINVAR
  601622 CLINVAR
SNOMED CT 83015004 CLINVAR