RGD:151844456 Rat Genome Database

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Variant: RGD:151844456 -  Homo sapiens

RGD ID: 151844456
RS ID: rs144706867
ClinVar ID: CV1363454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYCC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 22,985,689
GRCh38 7 22,946,070
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363467.2:c.*79C>T
NM_032581.4:c.1085C>T
NG_008392.1:g.73082C>T
NC_000007.14:g.22946070G>A
More... 		08/31/2021 3 prime utr variant uncertain significance LEUKODYSTROPHY, HYPOMYELINATING, 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HYCC1
Accession:NM_001363466
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:NM_001363467
Location:3UTRS;EXON

Gene Symbol:HYCC1
Accession:NM_032581
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFTLQFLP
ELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKV
VYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKGISSRIPVSSGFMVQM
LTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRCIQVEITPTSSRISRNAVTSM
SIRGHRWKRHGNTELTGQEELMEISEVDEGFYSRAASSTSQLGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGES
CKDHFARKQTQRAQSENLELLSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANR
FSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD*

Gene Symbol:HYCC1
Accession:XM_011515589
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTSEKGVVEEWLSEFKTLPETSLPNYATNLKDKSSLVSSLYKVIQEPQSELLEPVCHQLFEFYRSGEEQLLQFTLQFLP
ELIWCYLAVSASRNVHSSGCIEALLLGVYNLEIVDKQGHTKVLSFTIPSLSKPSVYHEPSSIGSMALTESALSQHGLSKV
VYSGPHPQREMLTAQNRFEVLTFLLLCYNAALTYMPSVSLQSLCQICSRICVCGYPRQHVRKYKGISSRIPVSSGFMVQM
LTGIYFAFYNGEWDLAQKALDDIIYRAQLELYPEPLLVANAIKASLPHGPMKSNKEGTRCIQVEITPTSSRISRNAVTSM
SIRGHRWKRHGNTELTGQEELMEISEVDEGFYSRAASSTSQLGLSNSSHNCSNKPSIGKNHRRSGGSKTGGKEKETTGES
CKDHFARKQTQRAQSENLELLSLKRLTLTTSQSLPKPSSHGLAKTAATVFSKSFEQVSGVTVPHNPSSAVGCGAGTDANR
FSACSLQEEKLIYVSERTELPMKHQSGQQRPPSISITLSTD*

Gene Symbol:HYCC1
Accession:XM_011515590
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002032220 CLINVAR
dbSNP (RS) rs144706867 CLINVAR
MedGen C1864663 CLINVAR
NCBI Gene FAM126A CLINVAR
OMIM 610531 CLINVAR
  610532 CLINVAR
SNOMED CT 702379005 CLINVAR