LHFPL5 (LHFPL tetraspan subfamily member 5)

Gene: LHFPL5 (LHFPL tetraspan subfamily member 5) Homo sapiens

Analyze

Symbol:

LHFPL5

Name:

LHFPL tetraspan subfamily member 5

RGD ID:

1347478

HGNC Page

HGNC:21253

Description:

Predicted to be involved in detection of mechanical stimulus involved in sensory perception and sensory perception of sound. Predicted to act upstream of or within auditory receptor cell stereocilium organization and detection of mechanical stimulus involved in sensory perception of sound. Predicted to be located in apical plasma membrane and stereocilium tip. Predicted to be active in plasma membrane. Implicated in autosomal recessive nonsyndromic deafness 67.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DFNB67; dJ510O8.8; LHFP-like protein 5; lipoma HMGIC fusion partner-like 5; lipoma HMGIC fusion partner-like 5 protein; MGC33835; tetraspan membrane protein of hair cell stereocilia; TMHS

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	35,805,352 - 35,824,070 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	35,797,206 - 35,845,397 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	35,773,129 - 35,791,847 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	35,881,049 - 35,899,830 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	35,881,048 - 35,899,830	NCBI
Celera	6	37,327,661 - 37,346,425 (+)	NCBI		Celera
Cytogenetic Map	6	p21.31	NCBI
HuRef	6	35,491,242 - 35,509,995 (+)	NCBI		HuRef
CHM1_1	6	35,774,824 - 35,793,580 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	35,625,702 - 35,644,396 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal recessive intellectual developmental disorder (IAGP)

autosomal recessive nonsyndromic deafness (IAGP)

autosomal recessive nonsyndromic deafness 67 (EXP,IAGP)

genetic disease (IAGP)

Hearing Loss (IAGP)

intellectual disability (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

amitrole (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (ISO)

clotrimazole (ISO)

copper atom (ISO)

copper(0) (ISO)

folic acid (EXP)

fulvestrant (EXP)

hydralazine (EXP)

methimazole (ISO)

methylphenidate (ISO)

sodium arsenite (EXP,ISO)

titanium dioxide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

auditory receptor cell stereocilium organization (IEA,ISO)

detection of mechanical stimulus involved in sensory perception (IBA,IEA)

detection of mechanical stimulus involved in sensory perception of sound (IEA,ISO)

monoatomic ion transport (IEA)

sensory perception of sound (IBA,IEA,ISO)

Cellular Component

apical plasma membrane (IEA)

membrane (IEA)

plasma membrane (IBA,IEA)

stereocilium bundle (IEA)

stereocilium tip (IEA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal fundus morphology (IAGP)

Abnormal vestibular function (IAGP)

Abnormality of the ear (IAGP)

Autosomal recessive inheritance (IAGP)

Bilateral sensorineural hearing impairment (IAGP)

Congenital onset (IAGP)

Hearing impairment (IAGP)

Sensorineural hearing impairment (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:12477932	PMID:15905332	PMID:16459341	PMID:19102128	PMID:20301607	PMID:21816241	PMID:21873635	PMID:24623722	PMID:25416956	PMID:25910212	PMID:26437881	PMID:26964900
PMID:30177809	PMID:30298622	PMID:30476627	PMID:31126177	PMID:31515488	PMID:32296183	PMID:33168709	PMID:33961781

Genomics

Comparative Map Data

LHFPL5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	35,805,352 - 35,824,070 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	35,797,206 - 35,845,397 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	35,773,129 - 35,791,847 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	35,881,049 - 35,899,830 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	6	35,881,048 - 35,899,830	NCBI
Celera	6	37,327,661 - 37,346,425 (+)	NCBI		Celera
Cytogenetic Map	6	p21.31	NCBI
HuRef	6	35,491,242 - 35,509,995 (+)	NCBI		HuRef
CHM1_1	6	35,774,824 - 35,793,580 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	35,625,702 - 35,644,396 (+)	NCBI		T2T-CHM13v2.0

Lhfpl5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	28,794,330 - 28,802,567 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	28,794,615 - 28,804,653 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	28,575,369 - 28,583,593 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	28,575,641 - 28,585,679 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	28,712,664 - 28,720,538 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	27,780,565 - 27,788,352 (+)	NCBI		MGSCv36	mm8
MGSCv36	17	28,303,321 - 28,311,092 (+)	NCBI		MGSCv36	mm8
Celera	17	29,129,951 - 29,134,400 (+)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	14.77	NCBI

Lhfpl5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	6,634,058 - 6,644,264 (+)	NCBI		GRCr8
mRatBN7.2	20	6,632,324 - 6,642,534 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	6,632,362 - 6,642,532 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	7,345,236 - 7,355,285 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	6,707,072 - 6,717,122 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	7,186,764 - 7,197,585 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,815,837 - 5,826,137 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,815,837 - 5,826,137 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,851,367 - 7,861,667 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	6,814,056 - 6,824,225 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	6,814,282 - 6,824,452 (+)	NCBI
Celera	20	8,188,650 - 8,198,670 (+)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Lhfpl5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955437	3,644,448 - 3,650,688 (+)	NCBI	ChiLan1.0	ChiLan1.0

LHFPL5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	50,273,564 - 50,291,642 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	46,141,493 - 46,159,560 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	35,367,304 - 35,389,595 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	36,569,008 - 36,589,102 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	36,569,008 - 36,589,102 (+)	Ensembl	panpan1.1		panPan2

LHFPL5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	4,919,732 - 4,936,823 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	4,902,832 - 4,936,413 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	4,934,745 - 4,951,853 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	5,261,351 - 5,278,696 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	5,261,460 - 5,283,351 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	4,917,192 - 4,934,293 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	4,996,288 - 5,013,405 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	5,097,141 - 5,114,473 (+)	NCBI		UU_Cfam_GSD_1.0

Lhfpl5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	40,468,584 - 40,481,195 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	23,482,756 - 23,491,811 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	23,479,939 - 23,491,611 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LHFPL5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	31,624,450 - 31,642,268 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	31,624,050 - 31,642,269 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	36,535,889 - 36,568,822 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LHFPL5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	36,295,612 - 36,313,964 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	36,298,479 - 36,313,490 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	35,731,742 - 35,772,825 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lhfpl5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624754	21,749,312 - 21,762,896 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	21,744,784 - 21,763,161 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LHFPL5
138 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	deletion	Autosomal recessive nonsyndromic hearing loss 67 [RCV000001762]\|Hearing loss, autosomal recessive [RCV001291454]	Chr6:35805916 [GRCh38] Chr6:35773693 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
NM_182548.4(LHFPL5):c.649+1del	deletion	Autosomal recessive nonsyndromic hearing loss 67 [RCV000001764]\|Ear malformation [RCV001813935]	Chr6:35814782 [GRCh38] Chr6:35782559 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000001763]	Chr6:35806050 [GRCh38] Chr6:35773827 [GRCh37] Chr6:6p21.31	pathogenic
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000001765]\|LHFPL5-related condition [RCV003964787]	Chr6:35814627 [GRCh38] Chr6:35782404 [GRCh37] Chr6:6p21.31	pathogenic\|uncertain significance
NM_182548.3(LHFPL5):c.451G>A (p.Gly151Ser)	single nucleotide variant	Malignant melanoma [RCV000061416]	Chr6:35814584 [GRCh38] Chr6:35782361 [GRCh37] Chr6:35890339 [NCBI36] Chr6:6p21.31	not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
NM_182548.4(LHFPL5):c.214G>A (p.Val72Met)	single nucleotide variant	not specified [RCV000150932]	Chr6:35805884 [GRCh38] Chr6:35773661 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu)	single nucleotide variant	not specified [RCV000150935]	Chr6:35814771 [GRCh38] Chr6:35782548 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)	single nucleotide variant	LHFPL5-related condition [RCV003907421]\|not provided [RCV001556721]\|not specified [RCV000150933]	Chr6:35814609 [GRCh38] Chr6:35782386 [GRCh37] Chr6:6p21.31	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn)	single nucleotide variant	LHFPL5-related condition [RCV003917473]\|not provided [RCV000975794]\|not specified [RCV000150934]	Chr6:35814748 [GRCh38] Chr6:35782525 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001152591]\|not provided [RCV000946938]\|not specified [RCV000218391]	Chr6:35805713 [GRCh38] Chr6:35773490 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)	single nucleotide variant	LHFPL5-related condition [RCV003907808]\|not provided [RCV001561498]\|not specified [RCV000218964]	Chr6:35806081 [GRCh38] Chr6:35773858 [GRCh37] Chr6:6p21.31	likely benign\|conflicting interpretations of pathogenicity
NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu)	single nucleotide variant	not specified [RCV000214805]	Chr6:35805846 [GRCh38] Chr6:35773623 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.525C>A (p.Ile175=)	single nucleotide variant	not specified [RCV000223212]	Chr6:35814658 [GRCh38] Chr6:35782435 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys)	single nucleotide variant	not specified [RCV000223355]	Chr6:35814608 [GRCh38] Chr6:35782385 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*423T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000278810]	Chr6:35823388 [GRCh38] Chr6:35791165 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.*560G>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000270857]	Chr6:35823525 [GRCh38] Chr6:35791302 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.474G>A (p.Arg158=)	single nucleotide variant	not specified [RCV000244939]	Chr6:35814607 [GRCh38] Chr6:35782384 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.*169G>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000269949]	Chr6:35823134 [GRCh38] Chr6:35790911 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*457C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000314322]	Chr6:35823422 [GRCh38] Chr6:35791199 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.-128C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000396603]\|not provided [RCV001591023]	Chr6:35805543 [GRCh38] Chr6:35773320 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_182548.4(LHFPL5):c.*512A>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000396715]	Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.*449C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000397220]	Chr6:35823414 [GRCh38] Chr6:35791191 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*419T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000267726]	Chr6:35823384 [GRCh38] Chr6:35791161 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*514T>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000368608]	Chr6:35823479 [GRCh38] Chr6:35791256 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*485C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000302230]	Chr6:35823450 [GRCh38] Chr6:35791227 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_182548.4(LHFPL5):c.*465T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000302629]	Chr6:35823430 [GRCh38] Chr6:35791207 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*904del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000316674]	Chr6:35823859 [GRCh38] Chr6:35791636 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.-63C>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000334847]	Chr6:35805608 [GRCh38] Chr6:35773385 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000400063]	Chr6:35806036 [GRCh38] Chr6:35773813 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*484AC[14]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000346680]	Chr6:35823449..35823450 [GRCh38] Chr6:35791226..35791227 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*827G>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000287259]	Chr6:35823792 [GRCh38] Chr6:35791569 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*803A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000379446]	Chr6:35823768 [GRCh38] Chr6:35791545 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*345G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000271185]	Chr6:35823310 [GRCh38] Chr6:35791087 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.-132A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000339572]\|not provided [RCV001537263]	Chr6:35805539 [GRCh38] Chr6:35773316 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_182548.3(LHFPL5):c.-337G>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000382195]	Chr6:35805334 [GRCh38] Chr6:35773111 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*385C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000321570]	Chr6:35823350 [GRCh38] Chr6:35791127 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.423_426del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000323466]	Chr6:35823387..35823390 [GRCh38] Chr6:35791164..35791167 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*481T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000385426]	Chr6:35823446 [GRCh38] Chr6:35791223 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.*475C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000260440]	Chr6:35823440 [GRCh38] Chr6:35791217 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*231G>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000365622]	Chr6:35823196 [GRCh38] Chr6:35790973 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*477T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000261625]	Chr6:35823442 [GRCh38] Chr6:35791219 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*425CA[17]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000294029]	Chr6:35823389..35823390 [GRCh38] Chr6:35791166..35791167 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*778C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000366718]	Chr6:35823743 [GRCh38] Chr6:35791520 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.-30G>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000390041]	Chr6:35805641 [GRCh38] Chr6:35773418 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*483T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000295870]	Chr6:35823448 [GRCh38] Chr6:35791225 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.-93C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000279683]	Chr6:35805578 [GRCh38] Chr6:35773355 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*1035C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000280391]	Chr6:35824000 [GRCh38] Chr6:35791777 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000369241]\|not provided [RCV002288978]	Chr6:35814639 [GRCh38] Chr6:35782416 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*779G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000264820]	Chr6:35823744 [GRCh38] Chr6:35791521 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*1010G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000372669]	Chr6:35823975 [GRCh38] Chr6:35791752 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.505_506insTCTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000273892]	Chr6:35823469..35823470 [GRCh38] Chr6:35791246..35791247 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.508_512delinsTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000277351]	Chr6:35823473..35823477 [GRCh38] Chr6:35791250..35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.465_466del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000266250]	Chr6:35823429..35823430 [GRCh38] Chr6:35791206..35791207 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000280081]	Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000314844]	Chr6:35806042 [GRCh38] Chr6:35773819 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*461TACA[1]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000345774]	Chr6:35823423..35823426 [GRCh38] Chr6:35791200..35791203 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*514TC[10]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000315116]	Chr6:35823477..35823478 [GRCh38] Chr6:35791254..35791255 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*484AC[18]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000382135]	Chr6:35823448..35823449 [GRCh38] Chr6:35791225..35791226 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*477TA[3]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000315725]	Chr6:35823441..35823442 [GRCh38] Chr6:35791218..35791219 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.480_481insCA	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000330949]	Chr6:35823444..35823445 [GRCh38] Chr6:35791221..35791222 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.506_512delinsTCTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000331289]	Chr6:35823471..35823477 [GRCh38] Chr6:35791248..35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.509_510insTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000381942]	Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*459C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000402020]	Chr6:35823424 [GRCh38] Chr6:35791201 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.461_466del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000365292]	Chr6:35823425..35823430 [GRCh38] Chr6:35791202..35791207 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.-298AG[1]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000383632]\|not provided [RCV001709628]	Chr6:35805373..35805374 [GRCh38] Chr6:35773150..35773151 [GRCh37] Chr6:6p21.31	benign\|likely benign
NM_182548.4(LHFPL5):c.*170A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000306246]	Chr6:35823135 [GRCh38] Chr6:35790912 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*425CA[15]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000348843]	Chr6:35823389..35823394 [GRCh38] Chr6:35791166..35791171 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.-161A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000284510]	Chr6:35805510 [GRCh38] Chr6:35773287 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.510_512delinsTCTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000284087]	Chr6:35823475..35823477 [GRCh38] Chr6:35791252..35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000368236]	Chr6:35805876 [GRCh38] Chr6:35773653 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.507_508insTCTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000369599]	Chr6:35823471..35823472 [GRCh38] Chr6:35791248..35791249 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000337436]	Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*790A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000322555]	Chr6:35823755 [GRCh38] Chr6:35791532 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*425CA[19]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000338516]	Chr6:35823388..35823389 [GRCh38] Chr6:35791165..35791166 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.423_428del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000373514]	Chr6:35823387..35823392 [GRCh38] Chr6:35791164..35791169 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.3(LHFPL5):c.-335A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000288173]	Chr6:35805336 [GRCh38] Chr6:35773113 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.508_512delinsTCTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000324983]	Chr6:35823473..35823477 [GRCh38] Chr6:35791250..35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*484AC[16]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000299736]	Chr6:35823448..35823449 [GRCh38] Chr6:35791225..35791226 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000299489]	Chr6:35805810 [GRCh38] Chr6:35773587 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.461_462del	deletion	Nonsyndromic Hearing Loss, Recessive [RCV000310846]	Chr6:35823425..35823426 [GRCh38] Chr6:35791202..35791203 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*514TC[6]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000311671]	Chr6:35823478..35823479 [GRCh38] Chr6:35791255..35791256 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.505_506insTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000356922]	Chr6:35823469..35823470 [GRCh38] Chr6:35791246..35791247 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.477_483delinsCACACACAC	indel	Nonsyndromic Hearing Loss, Recessive [RCV000374879]	Chr6:35823442..35823448 [GRCh38] Chr6:35791219..35791225 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.510_512delinsTCTCTCTCT	indel	Nonsyndromic Hearing Loss, Recessive [RCV000376228]	Chr6:35823475..35823477 [GRCh38] Chr6:35791252..35791254 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*477TA[5]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000289417]	Chr6:35823440..35823441 [GRCh38] Chr6:35791217..35791218 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.511_512insTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000341495]	Chr6:35823475..35823476 [GRCh38] Chr6:35791252..35791253 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*417TA[3]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000376306]	Chr6:35823381..35823382 [GRCh38] Chr6:35791158..35791159 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.509_510insTCTC	insertion	Nonsyndromic Hearing Loss, Recessive [RCV000289889]	Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*672dup	duplication	Nonsyndromic Hearing Loss, Recessive [RCV000328342]	Chr6:35823631..35823632 [GRCh38] Chr6:35791408..35791409 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.*510TC[4]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000328480]	Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.-305G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000329082]	Chr6:35805366 [GRCh38] Chr6:35773143 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*512TC[3]	microsatellite	Nonsyndromic Hearing Loss, Recessive [RCV000398228]	Chr6:35823475..35823476 [GRCh38] Chr6:35791252..35791253 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*479T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001152695]	Chr6:35823444 [GRCh38] Chr6:35791221 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000454165]	Chr6:35805671 [GRCh38] Chr6:35773448 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000498363]	Chr6:35814708 [GRCh38] Chr6:35782485 [GRCh37] Chr6:6p21.31	pathogenic
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)	single nucleotide variant	not specified [RCV000600803]	Chr6:35814605 [GRCh38] Chr6:35782382 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.321C>T (p.Leu107=)	single nucleotide variant	not provided [RCV001591356]\|not specified [RCV000612649]	Chr6:35805991 [GRCh38] Chr6:35773768 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.648C>T (p.Thr216=)	single nucleotide variant	not provided [RCV002529361]\|not specified [RCV000613537]	Chr6:35814781 [GRCh38] Chr6:35782558 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.649+17A>G	single nucleotide variant	not provided [RCV003825347]	Chr6:35814799 [GRCh38] Chr6:35782576 [GRCh37] Chr6:6p21.31	likely benign
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	copy number gain	not provided [RCV000682660]	Chr6:34683518..36905281 [GRCh37] Chr6:6p21.31-21.2	likely pathogenic
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000681540]\|Hearing loss, autosomal recessive [RCV001291455]	Chr6:35814585 [GRCh38] Chr6:35782362 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV000714562]	Chr6:35805997 [GRCh38] Chr6:35773774 [GRCh37] Chr6:6p21.31	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p21.31(chr6:35755658-35779879)x3	copy number gain	not provided [RCV000745647]	Chr6:35755658..35779879 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.453T>C (p.Gly151=)	single nucleotide variant	not provided [RCV000897997]	Chr6:35814586 [GRCh38] Chr6:35782363 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001152593]\|not provided [RCV000902192]	Chr6:35806005 [GRCh38] Chr6:35773782 [GRCh37] Chr6:6p21.31	likely benign\|uncertain significance
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs)	duplication	Rare genetic deafness [RCV000826115]	Chr6:35805755..35805756 [GRCh38] Chr6:35773532..35773533 [GRCh37] Chr6:6p21.31	likely pathogenic
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NC_000006.12:g.(?_35805660)_(35819505_?)dup	duplication	not specified [RCV000825949]	Chr6:35773437..35787282 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*461T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001152694]	Chr6:35823426 [GRCh38] Chr6:35791203 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.562G>A (p.Asp188Asn)	single nucleotide variant	not provided [RCV001093080]	Chr6:35814695 [GRCh38] Chr6:35782472 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*427C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158170]	Chr6:35823392 [GRCh38] Chr6:35791169 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*431C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158172]	Chr6:35823396 [GRCh38] Chr6:35791173 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.650-315T>G	single nucleotide variant	not provided [RCV001598333]	Chr6:35819122 [GRCh38] Chr6:35786899 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.412+41G>A	single nucleotide variant	not provided [RCV001589522]	Chr6:35806123 [GRCh38] Chr6:35773900 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.413-37C>T	single nucleotide variant	not provided [RCV001589966]	Chr6:35814509 [GRCh38] Chr6:35782286 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.507G>A (p.Thr169=)	single nucleotide variant	LHFPL5-related condition [RCV003948613]\|not provided [RCV001570348]	Chr6:35814640 [GRCh38] Chr6:35782417 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.*425C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158169]	Chr6:35823390 [GRCh38] Chr6:35791167 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*443C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158174]	Chr6:35823408 [GRCh38] Chr6:35791185 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*510A>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001154822]	Chr6:35823475 [GRCh38] Chr6:35791252 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*516T>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001154823]	Chr6:35823481 [GRCh38] Chr6:35791258 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*609G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001154824]	Chr6:35823574 [GRCh38] Chr6:35791351 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.412+21G>A	single nucleotide variant	not provided [RCV001556283]	Chr6:35806103 [GRCh38] Chr6:35773880 [GRCh37] Chr6:6p21.31	likely benign
NC_000006.12:g.35804978G>A	single nucleotide variant	not provided [RCV001677934]	Chr6:35804978 [GRCh38] Chr6:35772755 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.*241G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001156496]	Chr6:35823206 [GRCh38] Chr6:35790983 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*417T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001156498]	Chr6:35823382 [GRCh38] Chr6:35791159 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*386A>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001156497]	Chr6:35823351 [GRCh38] Chr6:35791128 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*447C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158175]	Chr6:35823412 [GRCh38] Chr6:35791189 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001152592]	Chr6:35805752 [GRCh38] Chr6:35773529 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153872]	Chr6:35819437 [GRCh38] Chr6:35787214 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153871]	Chr6:35814660 [GRCh38] Chr6:35782437 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*506A>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153977]	Chr6:35823471 [GRCh38] Chr6:35791248 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*16+177C>T	single nucleotide variant	not provided [RCV001665359]	Chr6:35819640 [GRCh38] Chr6:35787417 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.*16+259A>G	single nucleotide variant	not provided [RCV001667710]	Chr6:35819722 [GRCh38] Chr6:35787499 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.*429C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158171]	Chr6:35823394 [GRCh38] Chr6:35791171 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153870]	Chr6:35806081 [GRCh38] Chr6:35773858 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*433C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001158173]	Chr6:35823398 [GRCh38] Chr6:35791175 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*199A>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153873]	Chr6:35823164 [GRCh38] Chr6:35790941 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*487C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153974]	Chr6:35823452 [GRCh38] Chr6:35791229 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*501C>G	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153976]	Chr6:35823466 [GRCh38] Chr6:35791243 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*489C>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153975]	Chr6:35823454 [GRCh38] Chr6:35791231 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*421T>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001156499]	Chr6:35823386 [GRCh38] Chr6:35791163 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*508A>T	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001153978]	Chr6:35823473 [GRCh38] Chr6:35791250 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter)	single nucleotide variant	Hearing impairment [RCV001375080]	Chr6:35814637 [GRCh38] Chr6:35782414 [GRCh37] Chr6:6p21.31	likely pathogenic
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	copy number loss	Severe intrauterine growth retardation [RCV001291973]	Chr6:34401304..38435497 [GRCh37] Chr6:6p21.31-21.2	pathogenic
NM_182548.4(LHFPL5):c.490C>T (p.Gln164Ter)	single nucleotide variant	not provided [RCV003325081]	Chr6:35814623 [GRCh38] Chr6:35782400 [GRCh37] Chr6:6p21.31	pathogenic\|uncertain significance
NM_182548.4(LHFPL5):c.592G>A (p.Val198Met)	single nucleotide variant	Hearing impairment [RCV001375450]\|not provided [RCV001865880]	Chr6:35814725 [GRCh38] Chr6:35782502 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.*16+231dup	duplication	not provided [RCV001715250]	Chr6:35819682..35819683 [GRCh38] Chr6:35787459..35787460 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.*16+231del	deletion	not provided [RCV001652414]	Chr6:35819683 [GRCh38] Chr6:35787460 [GRCh37] Chr6:6p21.31	benign
NM_182548.4(LHFPL5):c.97A>C (p.Thr33Pro)	single nucleotide variant	not provided [RCV001768903]	Chr6:35805767 [GRCh38] Chr6:35773544 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.627C>T (p.Asp209=)	single nucleotide variant	not provided [RCV001733108]	Chr6:35814760 [GRCh38] Chr6:35782537 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.*16+1G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV001809334]	Chr6:35819464 [GRCh38] Chr6:35787241 [GRCh37] Chr6:6p21.31	pathogenic
NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter)	single nucleotide variant	LHFPL5-related condition [RCV003394262]\|not provided [RCV001806662]	Chr6:35806065 [GRCh38] Chr6:35773842 [GRCh37] Chr6:6p21.31	pathogenic\|likely pathogenic
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)	duplication	Autosomal recessive nonsyndromic hearing loss 67 [RCV001823221]	Chr6:35814593..35814594 [GRCh38] Chr6:35782370..35782371 [GRCh37] Chr6:6p21.31	pathogenic
NM_182548.4(LHFPL5):c.430G>A (p.Gly144Ser)	single nucleotide variant	not provided [RCV002045484]	Chr6:35814563 [GRCh38] Chr6:35782340 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.556A>G (p.Ile186Val)	single nucleotide variant	not provided [RCV002045170]	Chr6:35814689 [GRCh38] Chr6:35782466 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.169C>T (p.Pro57Ser)	single nucleotide variant	Inborn genetic diseases [RCV002560636]\|not provided [RCV001967255]	Chr6:35805839 [GRCh38] Chr6:35773616 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.605G>A (p.Arg202Gln)	single nucleotide variant	not provided [RCV001945977]	Chr6:35814738 [GRCh38] Chr6:35782515 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.187G>A (p.Gly63Ser)	single nucleotide variant	Inborn genetic diseases [RCV003382696]\|not provided [RCV001893632]	Chr6:35805857 [GRCh38] Chr6:35773634 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.153C>T (p.Gly51=)	single nucleotide variant	not provided [RCV001985704]	Chr6:35805823 [GRCh38] Chr6:35773600 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr)	single nucleotide variant	Inborn genetic diseases [RCV002545446]\|not provided [RCV002049371]	Chr6:35814593 [GRCh38] Chr6:35782370 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.473G>A (p.Arg158Gln)	single nucleotide variant	not provided [RCV001898175]	Chr6:35814606 [GRCh38] Chr6:35782383 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.649+6C>A	single nucleotide variant	not provided [RCV001979553]	Chr6:35814788 [GRCh38] Chr6:35782565 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.511G>A (p.Gly171Ser)	single nucleotide variant	not provided [RCV001979407]	Chr6:35814644 [GRCh38] Chr6:35782421 [GRCh37] Chr6:6p21.31	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_182548.4(LHFPL5):c.248C>T (p.Pro83Leu)	single nucleotide variant	not provided [RCV002293142]	Chr6:35805918 [GRCh38] Chr6:35773695 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.314T>C (p.Met105Thr)	single nucleotide variant	not provided [RCV002462712]	Chr6:35805984 [GRCh38] Chr6:35773761 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.338T>C (p.Ile113Thr)	single nucleotide variant	Inborn genetic diseases [RCV002762126]	Chr6:35806008 [GRCh38] Chr6:35773785 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.59G>A (p.Arg20Gln)	single nucleotide variant	Inborn genetic diseases [RCV002759018]\|not provided [RCV003222480]	Chr6:35805729 [GRCh38] Chr6:35773506 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.368C>T (p.Thr123Met)	single nucleotide variant	not provided [RCV002781269]	Chr6:35806038 [GRCh38] Chr6:35773815 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.634A>G (p.Lys212Glu)	single nucleotide variant	Inborn genetic diseases [RCV002853718]	Chr6:35814767 [GRCh38] Chr6:35782544 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.487G>A (p.Glu163Lys)	single nucleotide variant	Inborn genetic diseases [RCV002809477]	Chr6:35814620 [GRCh38] Chr6:35782397 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.37A>G (p.Ile13Val)	single nucleotide variant	not provided [RCV002811012]	Chr6:35805707 [GRCh38] Chr6:35773484 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.649+13C>T	single nucleotide variant	not provided [RCV002577968]	Chr6:35814795 [GRCh38] Chr6:35782572 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.154G>A (p.Asp52Asn)	single nucleotide variant	Inborn genetic diseases [RCV002718937]	Chr6:35805824 [GRCh38] Chr6:35773601 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.475C>G (p.Arg159Gly)	single nucleotide variant	not provided [RCV002942176]	Chr6:35814608 [GRCh38] Chr6:35782385 [GRCh37] Chr6:6p21.31	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_182548.4(LHFPL5):c.454T>G (p.Trp152Gly)	single nucleotide variant	Inborn genetic diseases [RCV003217355]	Chr6:35814587 [GRCh38] Chr6:35782364 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.397A>G (p.Met133Val)	single nucleotide variant	not provided [RCV003325080]	Chr6:35806067 [GRCh38] Chr6:35773844 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.586G>T (p.Ala196Ser)	single nucleotide variant	Inborn genetic diseases [RCV003308750]	Chr6:35814719 [GRCh38] Chr6:35782496 [GRCh37] Chr6:6p21.31	uncertain significance
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	copy number loss	not provided [RCV003485510]	Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1	pathogenic
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV003486136]	Chr6:35806018 [GRCh38] Chr6:35773795 [GRCh37] Chr6:6p21.31	uncertain significance
NM_182548.4(LHFPL5):c.522C>T (p.Thr174=)	single nucleotide variant	not provided [RCV003724428]	Chr6:35814655 [GRCh38] Chr6:35782432 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.650-11C>T	single nucleotide variant	not provided [RCV003824148]	Chr6:35819426 [GRCh38] Chr6:35787203 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.45T>C (p.His15=)	single nucleotide variant	not provided [RCV003821173]	Chr6:35805715 [GRCh38] Chr6:35773492 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67 [RCV003988903]	Chr6:35814660 [GRCh38] Chr6:35782437 [GRCh37]	uncertain significance
NM_182548.4(LHFPL5):c.144C>T (p.Tyr48=)	single nucleotide variant	LHFPL5-related condition [RCV003971418]	Chr6:35805814 [GRCh38] Chr6:35773591 [GRCh37] Chr6:6p21.31	likely benign
NM_182548.4(LHFPL5):c.446C>T (p.Pro149Leu)	single nucleotide variant	LHFPL5-related condition [RCV003956936]	Chr6:35814579 [GRCh38] Chr6:35782356 [GRCh37] Chr6:6p21.31	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	916
Count of miRNA genes:	667
Interacting mature miRNAs:	754
Transcripts:	ENST00000360215, ENST00000373853, ENST00000496656
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

272

163

1488

119

170

Below cutoff

1519

820

568

264

721

176

1355

829

1514

221

768

560

383

834

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012184	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_182548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK126841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL157823	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC028630	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000360215 ⟹ ENSP00000353346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,805,352 - 35,824,070 (+)	Ensembl

RefSeq Acc Id:

ENST00000496656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,811,245 - 35,833,874 (+)	Ensembl

RefSeq Acc Id:

ENST00000651132 ⟹ ENSP00000498322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,797,206 - 35,824,041 (+)	Ensembl

RefSeq Acc Id:

ENST00000651676 ⟹ ENSP00000498699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,805,499 - 35,845,397 (+)	Ensembl

RefSeq Acc Id:

ENST00000651994 ⟹ ENSP00000498310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,805,330 - 35,823,865 (+)	Ensembl

RefSeq Acc Id:

ENST00000652718 ⟹ ENSP00000498866

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	35,805,839 - 35,837,129 (+)	Ensembl

RefSeq Acc Id:

NM_182548 ⟹ NP_872354

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	35,805,352 - 35,824,070 (+)	NCBI
GRCh37	6	35,773,071 - 35,791,852 (+)	RGD
Build 36	6	35,881,049 - 35,899,830 (+)	NCBI Archive
Celera	6	37,327,661 - 37,346,425 (+)	RGD
HuRef	6	35,491,242 - 35,509,995 (+)	RGD
CHM1_1	6	35,774,824 - 35,793,580 (+)	NCBI
T2T-CHM13v2.0	6	35,625,702 - 35,644,396 (+)	NCBI

Sequence:

show sequence

CTCGGGAGCCGTGAGCCGGGAAGAGGGAGACGGGCAGGGCGGCGCCAGCAGGCCCTGGTGGGCT
TGGGAGGAGGCAGGAGACTGGAGACAGCCTCGGCTAGAGCGGACACAGGCACCTGGCAAGCTTT
CCTTGACCAAATCAAGGTTGTCCTTGTCCTATTAAGCCTCTTCCCCTTGCCTTGAAGGGACCTC
ACCTGGTGCCCTGACCTCAGCCTCCTCCCCAAACCCCGCTGGGGAGTGACCTGCTTCTAGGCCT
CCATCCACAAAGCTACGGACTTGCAGCCCACGGGACCCCAGCCCAGGGCCTGCTGCCCTCACCA
TGGTGAAATTGCTGCCGGCCCAGGAGGCAGCCAAGATCTACCATACCAACTATGTGCGGAACTC
GCGAGCCGTGGGCGTGATGTGGGGTACCCTCACCATCTGCTTCTCCGTACTGGTCATGGCCCTC
TTCATCCAGCCCTACTGGATCGGCGACAGCGTCAACACACCGCAGGCAGGCTACTTCGGCCTTT
TCTCCTACTGCGTGGGTAACGTGCTGTCCTCCGAGCTCATCTGCAAGGGCGGCCCCCTAGACTT
CTCCTCCATCCCCTCTAGAGCCTTCAAGACTGCCATGTTCTTTGTGGCCTTGGGCATGTTCCTC
ATCATTGGCTCCATCATCTGCTTCAGCCTGTTCTTCATCTGCAACACGGCCACAGTCTATAAGA
TCTGTGCATGGATGCAGCTGGCTGCGGCCACAGGCCTAATGATTGGCTGCCTGGTCTACCCTGA
TGGTTGGGACTCAAGTGAGGTGCGGCGCATGTGTGGGGAGCAGACGGGCAAGTACACGCTGGGC
CACTGCACCATCCGCTGGGCCTTCATGCTGGCCATCCTCAGCATTGGCGACGCCCTCATCCTCT
CCTTCCTGGCCTTCGTGTTGGGCTACCGGCAGGACAAGCTCCTCCCTGACGACTACAAGGCAGA
TGGAACCGAGGAGGTGTGAAGCAGCTGAAGGGTCGGTCATCTATTTCCCAGACACAGGAAAACT
AGGGAATCAAATTCTTCAGAGATAAGAACTTGTTCTTCCAAGTTTCCTTGTTCCTGGCTACTAT
AGGCCTGAAGCCTGAAGCCTTTTATTATAACACTAAAACTGGACAGTCTCCTGAGACAAGACCT
CCTACTGTACTCTTTCTGGGGAAGCAGAACTGCAGTGACCCACTTCAAAGATATTCAGAGGCTG
AGCGGTGCAGGGAGTGCTCAGTTGCTGGGGATGGGATCCAAGTCCATTTCTTAGTTCCACACAG
CAGCAAATCGCTTCACCTTCTTGAAGCCTCTCCTCTGTAAAGCGAGAGGGCTAAATGGGTCCAT
CTCTAGGGGCCTTCCCTCCCAGGTCTGTGTCTGATAGCATACACACACACATATATATACACAC
ACACACACACACACACACACACACACACACATACATACACACACACATATATATACACACACAC
ACACACACACACACACACACTCTCTCTCTCTCTCAAACACACACAAATGCCCAACCAGCTCTAA
GAGGGCACTGAAGAGGTGGCTGGACATGTGCTGGGTCATTTTTAGGGTGAGGTGTAGGGGGTCT
TTTGCTTCTCCCTTCTCATATTTTGTTTTCTTATTGCTGCTCAGAGGGGGGTAAGGAATGGAGG
GGCCATCAGAACTTGAATCCTTTAACATCCACCAGGAAGTTTTATGAAGAGTGGGTGATAGGAT
CTAAAATCTCTGCAGACTTTTTTCCTCCCGGGAGCCAAATATCACATTTCCTTATGGTGCCCAC
ACTGACTCAACCAGAACTGGCTACCAGCTTCAGAAATGTGTTACTTATGTTCAAGTAATTTGTT
ATAGGAATAGATGACATTTTTTTTTTTCAAAAACTTTGGATTTGGCATATAGTCATCTATAGGG
GGATTGGTTCCAGGATCCCCTGCAGATGCCAAAATACATGGATGCCCAAGTCCTCAGCTAAAAA
TAGCGTAGTATTTGCATATAACCTATGCACATCCTCCTGTATACTTTAAATCATCTCTAGATTA
CTTATAATACCTAATACAATGTAAATGCTATGTAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_872354	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH28630	(Get FASTA)	NCBI Sequence Viewer
	BAG54378	(Get FASTA)	NCBI Sequence Viewer
	EAX03852	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000353346
	ENSP00000353346.1
	ENSP00000498310.1
	ENSP00000498322.1
	ENSP00000498699.1
	ENSP00000498866.1
GenBank Protein	Q8TAF8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_872354 ⟸ NM_182548

- UniProtKB:

B3KX66 (UniProtKB/Swiss-Prot), Q8TAF8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGL
FSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYK
ICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALIL
SFLAFVLGYRQDKLLPDDYKADGTEEV

hide sequence

RefSeq Acc Id:

ENSP00000353346 ⟸ ENST00000360215

RefSeq Acc Id:

ENSP00000498699 ⟸ ENST00000651676

RefSeq Acc Id:

ENSP00000498310 ⟸ ENST00000651994

RefSeq Acc Id:

ENSP00000498322 ⟸ ENST00000651132

RefSeq Acc Id:

ENSP00000498866 ⟸ ENST00000652718

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TAF8-F1-model_v2	AlphaFold	Q8TAF8	1-219	view protein structure

Promoters

RGD ID:

6872986

Promoter ID:

EPDNEW_H9658

Type:

initiation region

Name:

LHFPL5_1

Description:

lipoma HMGIC fusion partner-like 5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	35,805,355 - 35,805,415	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21253	AgrOrtholog
COSMIC	LHFPL5	COSMIC
Ensembl Genes	ENSG00000197753	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000360215	ENTREZGENE
	ENST00000360215.3	UniProtKB/Swiss-Prot
	ENST00000651132.1	UniProtKB/Swiss-Prot
	ENST00000651676.1	UniProtKB/Swiss-Prot
	ENST00000651994.1	UniProtKB/TrEMBL
	ENST00000652718.1	UniProtKB/TrEMBL
GTEx	ENSG00000197753	GTEx
HGNC ID	HGNC:21253	ENTREZGENE
Human Proteome Map	LHFPL5	Human Proteome Map
InterPro	LHFPL	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:222662	UniProtKB/Swiss-Prot
NCBI Gene	222662	ENTREZGENE
OMIM	609427	OMIM
PANTHER	LHFPL TETRASPAN SUBFAMILY MEMBER 5 PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR12489	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	L_HMGIC_fpl	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134943389	PharmGKB
UniProt	A0A494BZZ7_HUMAN	UniProtKB/TrEMBL
	A0A494C136_HUMAN	UniProtKB/TrEMBL
	B3KX66	ENTREZGENE
	LHPL5_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B3KX66	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-06-27	LHFPL5	LHFPL tetraspan subfamily member 5	LHFPL5	lipoma HMGIC fusion partner-like 5	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar