RGD:11648612 Rat Genome Database

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Variant: RGD:11648612 -  Homo sapiens

RGD ID: 11648612
RS ID: rs886050481
ClinVar ID: CV320502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-1  SFTA3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 36,986,489
GRCh38 14 36,517,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013365.1:g.7942C>T
NC_000014.9:g.36517284G>A
NC_000014.8:g.36986489G>A
NP_001073136.1:p.Thr400=
More... 		06/24/2022 synonymous variant likely benign|uncertain significance childhood|infancy <1 / 1 000 000 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-1
Accession:NM_003317
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSH
SAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAP
RRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQ
PGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW*

Gene Symbol:NKX2-1
Accession:NM_001079668
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 400
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPT
AAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMG
PASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ
NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQA
QHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRT
W*

Gene Symbol:SFTA3
Accession:NR_138601
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161362
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161365
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161364
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_161363
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138600
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138599
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138597
Location:INTRON;NON-CODING

Gene Symbol:SFTA3
Accession:NR_138598
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000282908 CLINVAR
  RCV000347223 CLINVAR
  RCV002520901 CLINVAR
dbSNP (RS) rs886050481 CLINVAR
MedGen C0393584 CLINVAR
  C1970269 CLINVAR
  C3661900 CLINVAR
NCBI Gene NKX2-1 CLINVAR
  SFTA3 CLINVAR
OMIM 118700 CLINVAR
  600635 CLINVAR
  610978 CLINVAR
  617860 CLINVAR
SNOMED CT 230306001 CLINVAR