RGD:156251704 Rat Genome Database

RGD:156251704 Rat Genome Database

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Variant: RGD:156251704 - Homo sapiens

RGD ID:

156251704

ClinVar ID:

CV2286876

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TMLHE TMLHE-AS1

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	X	154,721,227
GRCh38	X	155,491,566

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_018196.3:c.1235A>G NP_060666.1:p.Asn412Ser NM_018196.4:c.1235A>G NG_021318.1:g.126396A>G More...	06/03/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	TMLHE
Accession:	XM_047442235
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	344

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQP RILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFS RGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGEC HNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVL HGRECFTGYRQLCGCYLTRDDVLTTARLLGLQA*

Gene Symbol:	TMLHE
Accession:	NM_018196
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	412

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWYHRLSHLHSRLQDLLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHC RSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQA QVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALD RHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLN IYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVLHGRECFTGYRQL CGCYLTRDDVLTTARLLGLQA*

Gene Symbol:	TMLHE
Accession:	XM_047442236
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	344

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQP RILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFS RGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGEC HNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFWVKLKPGRVLFIDNWRVL HGRECFTGYRQLCGCYLTRDDVLTTARLLGLQA*

Gene Symbol:	TMLHE
Accession:	XM_011531182
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	361

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVIKEMNQELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLN WLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISL IRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFEL LSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFW VKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLTTARLLGLQA*

Gene Symbol:	TMLHE
Accession:	XM_047442234
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	361

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVIKEMNQELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLN WLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISL IRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFEL LSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRYNNYDRAVINTVPYDVVHRWYTAHRTLTIELRRPENEFW VKLKPGRVLFIDNWRVLHGRECFTGYRQLCGCYLTRDDVLTTARLLGLQA*

Gene Symbol:	TMLHE
Accession:	NM_001184797
Location:	INTRON

Gene Symbol:	TMLHE
Accession:	XM_017029620
Location:	INTRON

Gene Symbol:	TMLHE-AS1
Accession:	NR_039991
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004142674	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	TMLHE	CLINVAR
	TMLHE-AS1	CLINVAR
OMIM	300777	CLINVAR