RGD:155916418 Rat Genome Database

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Variant: RGD:155916418 -  Homo sapiens

RGD ID: 155916418
ClinVar ID: CV2366659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMDHD2  CEMP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,580,531
GRCh38 16 2,530,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001139287.1:p.Thr519Ser
NP_001041677.1:p.Val182Leu
NP_001041681.1:p.Val182Leu
NM_001330449.2:c.*967C>G
More... 		10/21/2021 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AMDHD2
Accession:NM_001410943
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:XM_017023267
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:XM_017023266
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_001330449
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:XM_047434190
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_015944
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:CEMP1
Accession:NM_001048212
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSSTDSQQAGHRRCSTSNTSAENLTCLSLPGSPGKTAPLPGPAQAGAGQPLPKGCAAVKAEVGIPAPHTSQEVRIHIR
RLLSWAAPGACGLRSTPCALPQALPQARPCPGRWFFPGCSLPTGGAQTILSLWTWRHFLNWALQQREENSGRARRVPPVP
RTAPVSKGEGSHPPQNSNGEKLKTITPDVGLHQSLTSDPTVAVLRAKRAPEAHPPRSCSGSLTARVCHMGVCQGQGDTED
GRMTLMG*

Gene Symbol:AMDHD2
Accession:NM_001145815
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQINGGFGVDF
SQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHL
RSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWSGATFITHLFNAMLPF
HHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALGLGNGRHTLGQQEVEVDGLTA
YVAGERPDPLGPRSQPACQVAHDPPRACPLCSQGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLHPAQLLGLEKS
KGTLDFGADADFVVLDDSLHVQATYISGPVLAGCGDPAWCWRAVWEAPVCPAHPISVILPSSVSPWPWHTPMWQTRAVRL
PEQLRGGWASGALLALRTATVGSDVRDWCSPTSGVIVLSFSPFEFWGGWLPSPLLTGAVLGTGGTRLALPLFSSLCCKAQ
LRKCLQVQRDRMVWAPPVGREQPGKNHLPGQGLA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004210666 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AMDHD2 CLINVAR
  CEMP1 CLINVAR
OMIM 611113 CLINVAR