RGD:243053135 Rat Genome Database

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Variant: RGD:243053135 -  Homo sapiens

RGD ID: 243053135
ClinVar ID: CV2418107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HESX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 57,232,789
GRCh38 3 57,198,761
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001362989.1:p.Gln117Ter
NP_001362990.1:p.Gln117Ter
NP_003856.1:p.Gln117Ter
NM_001376058.1:c.349C>T
More... 		02/23/2023 nonsense likely pathogenic De morsier syndrome; Hypopituitarism and septooptic 'dysplasia'; 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_003865
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_005265526
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376059
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376058
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376060
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376061
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449143
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449142
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFT*NQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003153172 CLINVAR
MedGen C0338503 CLINVAR
NCBI Gene HESX1 CLINVAR
OMIM 182230 CLINVAR
  601802 CLINVAR
SNOMED CT 7611002 CLINVAR