RGD:28877887 Rat Genome Database

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Variant: RGD:28877887 -  Homo sapiens

RGD ID: 28877887
RS ID: rs775015070
ClinVar ID: CV860105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX2-1  SFTA3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 36,988,221
GRCh38 14 36,519,016
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003317.4:c.342C>A
NM_001079668.3:c.432C>A
NG_013365.1:g.6210C>A
NC_000014.9:g.36519016G>T
More... 		03/09/2020 nonsense pathogenic|likely pathogenic CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NKX2-1
Accession:NM_001079668
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSGGSGKARGWEAAAGGRSSPGRLSRRRIMSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPT
AAMQQHAVGHHGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMG
PASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQ
NHRYKMKRQAKDKAAQQQLQQDSGGGGGGGGTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQA
QHQAQAAQAAAAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRT
W*

Gene Symbol:NKX2-1
Accession:NM_003317
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGHHGAVTAAYHMTAAGVPQLSH
SAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDPRFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAP
RRKRRVLFSQAQVYELERRFKQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAAAAAISVGSGGAGLGAHPGHQ
PGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTMSCSTLLYGRTW*

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

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:23430038   PMID:24171694   PMID:24930029   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001090526 CLINVAR
  RCV003236866 CLINVAR
dbSNP (RS) rs775015070 CLINVAR
MedGen C1970269 CLINVAR
  C3661900 CLINVAR
NCBI Gene NKX2-1 CLINVAR
  SFTA3 CLINVAR
OMIM 600635 CLINVAR
  610978 CLINVAR
  617860 CLINVAR