RGD:405813409 Rat Genome Database

RGD:405813409 Rat Genome Database

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Variant: RGD:405813409 - Homo sapiens

RGD ID:

405813409

ClinVar ID:

CV3276150

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KLHL25 LOC127830538

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	86,312,429
GRCh38	15	85,769,198

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022480.4:c.613G>A NG_132018.1:g.738C>T NC_000015.10:g.85769198C>T NC_000015.9:g.86312429C>T More...	02/03/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KLHL25
Accession:	NM_022480
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGSMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETKDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

Gene Symbol:	KLHL25
Accession:	XM_047432938
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGSMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETKDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

Gene Symbol:	KLHL25
Accession:	XM_047432937
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGSMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETKDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004409386	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KLHL25	CLINVAR
OMIM	619893	CLINVAR