RGD:156344299 Rat Genome Database

RGD:156344299 Rat Genome Database

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Variant: RGD:156344299 - Homo sapiens

RGD ID:

156344299

ClinVar ID:

CV2349492

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KLHL25 LOC127830538

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	86,311,952
GRCh38	15	85,768,721

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_132018.1:g.261C>T NC_000015.10:g.85768721C>T NC_000015.9:g.86311952C>T NM_022480.3:c.1090G>A More...	08/09/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KLHL25
Accession:	NM_022480
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	364

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

Gene Symbol:	KLHL25
Accession:	XM_047432937
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	364

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

Gene Symbol:	KLHL25
Accession:	XM_047432938
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	364

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004201460	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KLHL25	CLINVAR
OMIM	619893	CLINVAR