rs770886420 Rat Genome Database

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Variant: rs770886420 -  Homo sapiens

RGD ID: 150413217
RS ID: rs770886420
ClinVar ID: CV1197127
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HESX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 57,232,308
GRCh38 3 57,198,280
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001362987.1:p.Arg159Trp
NP_001362988.1:p.Arg159Trp
NM_003865.3:c.475C>T
NG_008242.1:g.6973C>T
More... 		07/11/2024 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance De morsier syndrome; Growth hormone deficiency with pituitary anomalies; HESX1-related condition; Hypopituitarism and septooptic 'dysplasia'; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Septo-optic dysplasia; Septo-optic dysplasia with growth hormone deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HESX1
Accession:NM_001376058
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376060
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376061
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449142
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_005265526
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_003865
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449143
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376059
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNWR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NR_164757
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:2700987   PMID:25741868   PMID:27000987   PMID:28396770   PMID:28492532   PMID:31395954  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001574554 CLINVAR
  RCV002506683 CLINVAR
  RCV002573229 CLINVAR
  RCV004753369 CLINVAR
  RCV004801040 CLINVAR
dbSNP (RS) rs770886420 CLINVAR
MedGen C0338503 CLINVAR
  C3661900 CLINVAR
NCBI Gene HESX1 CLINVAR
OMIM 182230 CLINVAR
  601802 CLINVAR
SNOMED CT 7611002 CLINVAR