RGD:15121022 Rat Genome Database

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Variant: RGD:15121022 -  Homo sapiens

RGD ID: 15121022
RS ID: rs374026526
ClinVar ID: CV757985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGLL1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 23,915,573
GRCh38 22 23,573,386
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_064455.1:p.Ala174=
NP_001356835.1:p.Ala175=
NM_152855.3:c.*151G>A
NM_020070.4:c.522G>A
More... 		10/09/2018 3 prime utr variant likely benign AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT; Lambda 5 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGLL1
Accession:NM_152855
Location:3UTRS;EXON

Gene Symbol:IGLL1
Accession:NM_020070
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAASQSRALGPGAPGGSSRSSLRSRWGRFLLQRGSWTGP
RCWPRGFQSKHNSVTHVFGSGTQLTVLSQPKATPSVTLFPPSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQGV
EMTTPSKQSNNKYAASSYLSLTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS*

Gene Symbol:IGLL1
Accession:NM_001369906
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAASQSRALGPGAPGGSSRSSLRSRWGSRFLLQRGSWTG
PRCWPRGFQSKHNSVTHVFGSGTQLTVLSQPKATPSVTLFPPSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQG
VEMTTPSKQSNNKYAASSYLSLTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001490550 CLINVAR
dbSNP (RS) rs374026526 CLINVAR
MedGen C3150750 CLINVAR
NCBI Gene IGLL1 CLINVAR
OMIM 146770 CLINVAR
  613500 CLINVAR