RGD:13512187 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13512187 -  Homo sapiens

RGD ID: 13512187
RS ID: rs141863326
ClinVar ID: CV485733
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HESX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 57,232,938
GRCh38 3 57,198,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008242.1:g.6343G>A
NC_000003.12:g.57198910C>T
NC_000003.11:g.57232938C>T
NP_003856.1:p.Ser67Asn
More...
05/08/2023 missense variant uncertain significance De morsier syndrome; Growth hormone deficiency with pituitary anomalies; Hypopituitarism and septooptic 'dysplasia'; PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1; 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: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_005265526
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376059
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376058
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376060
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:NM_001376061
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449143
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

Gene Symbol:HESX1
Accession:XM_047449142
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPNGISFPSVVDHPMP
EERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRR
AKLKRSHRESQFLMAKKNFNTNLLE*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000583330 CLINVAR
  RCV000584570 CLINVAR
  RCV003767318 CLINVAR
dbSNP (RS) rs141863326 CLINVAR
MedGen C0338503 CLINVAR
  C2751608 CLINVAR
NCBI Gene HESX1 CLINVAR
OMIM 182230 CLINVAR
  601802 CLINVAR
  613038 CLINVAR
SNOMED CT 7611002 CLINVAR