RGD:156180128 Rat Genome Database

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Variant: RGD:156180128 -  Homo sapiens

RGD ID: 156180128
ClinVar ID: CV2327715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KHDC1L  LOC113175017  LOC122539213  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 73,933,892
GRCh38 6 73,224,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001126063.3:c.292C>G
NG_061695.2:g.418G>C
NC_000006.12:g.73224169G>C
NC_000006.11:g.73933892G>C
More... 		12/05/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KHDC1L
Accession:NM_001126063
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVGTSALSKEPWWTLPENFHSPMVFHMEEDQEELIFGLDDTYLRCIELHSHTLIQLERCFTATGQTRVTVVGPPMAKQW
LLLMFHCVGSQDSKCHARGLKMLERVRSQPLTNDDLVTSVSLPPYTGD*

Gene Symbol:LOC122539213
Accession:NR_173145
Location:EXON;NON-CODING

Gene Symbol:LOC122539213
Accession:NR_173146
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004177282 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KHDC1L CLINVAR
  LOC113175017 CLINVAR
  LOC122539213 CLINVAR