RGD:26922079 Rat Genome Database

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Variant: RGD:26922079 -  Homo sapiens

RGD ID: 26922079
RS ID: rs1356972733
ClinVar ID: CV829530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMX1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 8,869,982
GRCh38 4 8,868,256
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306142.2:c.394+2965C>G
NM_018942.3:c.484C>G
NG_013062.2:g.8562C>G
NC_000004.12:g.8868256G>C
More... 		12/30/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMX1
Accession:NM_018942
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 162
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDELTEPGRATPARASSFLIENLLAAEAKGAGRATQGDGSREDEEEDDDDPEDEDAEQARRRRLQRRRQLLAGTGPGGE
ARARALLGPGALGLGPRPPPGPGPPFALGCGGAARWYPRAHGGYGGGLSPDTSDRDSPETGEEMGRAEGAWPRGPGPGAV
QGEAAELAARGPAAGTEEASELAEVPAAAGETRGGVGVGGGRKKKTRTVFSRSQVFQLESTFDLKRYLSSAERAGLAASL
QLTETQVKIWFQNRRNKWKRQLAAELEAASLSPPGAQRLVRVPVLYHESPPAAAAAGPPATLPFPLAPAAPAPPPPLLGF
SGALAYPLAAFPAAASVPFLRAQMPGLV*

Gene Symbol:HMX1
Accession:NM_001306142
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001051417 CLINVAR
dbSNP (RS) rs1356972733 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMX1 CLINVAR
OMIM 142992 CLINVAR