RGD:405808182 Rat Genome Database

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Variant: RGD:405808182 -  Homo sapiens

RGD ID: 405808182
ClinVar ID: CV3266045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP5-11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 71,293,838
GRCh38 11 71,582,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001005405.3:c.46G>A
NC_000011.10:g.71582792C>T
NC_000011.9:g.71293838C>T
NM_001005405.2:c.46G>A
More... 		01/18/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRTAP5-11
Accession:NM_001005405
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCCGCSGGCGSGCGSCGSGSGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCSSCGSCGGSKGGCGSCGSSKGGCGSC
GCSQSNCCKPCCSSSGCGSFCCQSSCSKPCCCQSSCCQSSCCKPCCCQSSCCQSSCFKPCCCQSSCCVPVCCQCKI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004406927 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRTAP5-11 CLINVAR