RGD:401893224 Rat Genome Database

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Variant: RGD:401893224 -  Homo sapiens

RGD ID: 401893224
ClinVar ID: CV2766249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMDHD2  CEMP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 2,580,643
GRCh38 16 2,530,642
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330449.2:c.*1079C>G
NM_001410943.1:c.*1079C>G
NM_015944.4:c.*1079C>G
NM_001145815.2:c.1668C>G
More... 		06/16/2023 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AMDHD2
Accession:NM_001330449
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_001410943
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:CEMP1
Accession:NM_001048212
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSSTDSQQAGHRRCSTSNTSAENLTCLSLPGSPGKTAPLPGPAQAGAGQPLPKGCAAVKAEVGIPAPHTSQEVRIHIR
RLLSWAAPGACGLRSTPCALPQALPQARPCPGRWFFPGCSLPTGGAQTILSLWTWRHFLNWALQQREENSGRARRVPPVP
RTAPVSKGEGSHPPQNSNGEKVKTITPDVGLHQSLTSDPTVAVLRAKRAPEAHPPRSCSGSLTARVCHMGVCQGQGDTED
GRMTLMG*

Gene Symbol:AMDHD2
Accession:NM_001145815
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 556
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQINGGFGVDF
SQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHL
RSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWSGATFITHLFNAMLPF
HHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALGLGNGRHTLGQQEVEVDGLTA
YVAGERPDPLGPRSQPACQVAHDPPRACPLCSQGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLHPAQLLGLEKS
KGTLDFGADADFVVLDDSLHVQATYISGPVLAGCGDPAWCWRAVWEAPVCPAHPISVILPSSVSPWPWHTPMWQTRAVRL
PEQLRGGWASGALLALRTATVGSDVRDWCSPTSGVIVLTFSPFEFWGGWLPSPLLTGAVLGTGGTRLALPLFSSLCCKAQ
LRKCLQVQRDRMVWAPPVGREQPGKNHLPGQGLA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004340684 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AMDHD2 CLINVAR
  CEMP1 CLINVAR
OMIM 611113 CLINVAR