rs1788580077 Rat Genome Database

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Variant: rs1788580077 -  Homo sapiens

RGD ID: 38467170
RS ID: rs1788580077
ClinVar ID: CV933812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129998021  TWIST1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 19,156,502
GRCh38 7 19,116,879
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.443C>T
NG_008114.2:g.5794C>T
NC_000007.14:g.19116879G>A
NC_000007.13:g.19156502G>A
More... 		07/26/2019 missense variant likely 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: T to I (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRGKKSAG
CGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQILKLAARYIDFLY
QVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH*

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

Variant Samples
Additional References at PubMed
PMID:9585583   PMID:10649491   PMID:16251895   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001212895 CLINVAR
dbSNP (RS) rs1788580077 CLINVAR
MedGen C4551902 CLINVAR
NCBI Gene LOC129998021 CLINVAR
  TWIST1 CLINVAR
OMIM 101400 CLINVAR
  123100 CLINVAR
  601622 CLINVAR
SNOMED CT 83015004 CLINVAR