Full data view for gene LMBR1

Information The variants shown are described using the NM_022458.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.(-215_66+7864)_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(156354234_156431379)_(156677758_156687494)dup - - - LMBR1_000035 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam4 PubMed: Sun 2008 4-generation family, 6 affected (3F, 3M) F;M - China Han - - - - 6 Johan den Dunnen
+/. - c.(319_374)_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(156354234_156431379)_(156589132_156619299)dup - - - LMBR1_000034 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam3 PubMed: Sun 2008 5-generation family, 16 affected (9F, 7M) F;M - China Han - - - - 16 Johan den Dunnen
+/. - c.(319_374)_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(156241127_156354086)_(156589132_156619299)dup - - - LMBR1_000032 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam5 PubMed: Sun 2008 4-generation family, 2 affected sisters F - China Han - - - - 2 Johan den Dunnen
+/. - c.(66+23745_66+23804)_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(156368541_156396066)_(156661818_156661877)dup - hg18 arr7q36.3 (156,061,302x2,156,088,827–156,354,638x3,156,354,579x2) - LMBR1_000026 276kb duplication; variant covering SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - - - DNA arrayCGH - - ? Fam4 PubMed: Wieczorek 2010 family, 6 affected - - Turkey - - - - - 6 Johan den Dunnen
+/. - c.(66+7864_67-15523)_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(156241127_156354086)_(156645102_156677758)dup - - - LMBR1_000036 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam2 PubMed: Sun 2008 5-generation family, 12 affected (8F, 4M) F;M - China Han - - - - 12 Johan den Dunnen
+/. - c.-215_(535_757+9376){2} r.? p.? Parent #1 - pathogenic (dominant) g.(156539711_156556378)_(156687612_156699894)dup - - - LMBR1_000029 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam1 PubMed: Sun 2008 6-generation family, 27 affected (11F, 16M) F;M - China Han - - - - 27 Johan den Dunnen
+/. _1_17_ c.-215_*3202{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_156241021)_(156687612_156699894)dup - - - LMBR1_000033 variant may affect SHH expression PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam6 PubMed: Wang 2007, PubMed: Sun 2008 5-generation family, 21 (5F, 16M) F;M - China Han - - - - 21 Johan den Dunnen
-?/. - c.13G>A r.(?) p.(Asp5Asn) Unknown - likely benign g.156685675C>T - LMBR1(NM_022458.3):c.13G>A (p.(Asp5Asn)) - LMBR1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16G>A r.(?) p.(Glu6Lys) Unknown - likely benign g.156685672C>T g.156892978C>T LMBR1(NM_022458.3):c.16G>A (p.(Glu6Lys)), LMBR1(NM_022458.4):c.16G>A (p.E6K) - LMBR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16G>A r.(?) p.(Glu6Lys) Unknown - VUS g.156685672C>T - LMBR1(NM_022458.3):c.16G>A (p.(Glu6Lys)), LMBR1(NM_022458.4):c.16G>A (p.E6K) - LMBR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(66+23745_66+23804)_(424-16262_424-16203)dup r.? p.? Unknown - pathogenic (dominant) g.(156572692_156572751)_(156661818_156661877)dup g.(156779998_156780057)_(156869124_156869183)dup - hg18 arr7q36.3(156,265,512x2,156,265,453–156,354,638x3,156,354,579x2) LMBR1_000025 73kb duplication; variant covers SHH regulatory element PubMed: Wieczorek 2010 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? Fam3 PubMed: Wieczorek 2010 - F - Germany - - - - - 1 Johan den Dunnen
?/. - c.179+1G>A r.spl? p.? Unknown - VUS g.156626446C>T g.156833752C>T LMBR1(NM_022458.3):c.179+1G>A (p.?) - LMBR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_4i c.(180-2500_180-1200)_(319+2700_319+3500)del r.180_319del p.Leu61Phefs*66 Both (homozygous) - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - - - DNA, RNA microsat, PCR, RT-PCR, SEQ - - ACHP Fam2PatVI2 PubMed: Ianakiev 2001 6-generation family, 4 affected (F/M) F yes Brazil - - - - - 4 Johan den Dunnen
+/. 3i_4i c.(180-2500_180-1200)_(319+2700_319+3500)del r.180_319del p.Leu61Phefs*66 Both (homozygous) - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - - - DNA, RNA microsat, PCR, RT-PCR, SEQ - - ACHP Fam1PatV3 PubMed: Ianakiev 2001 5-generation family, 1 affected M yes Brazil - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(180-2500_180-1200)_(319+2700_319+3500)del r.180_319del p.Leu61Phefs*66 Both (homozygous) - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - - - DNA, RNA microsat, PCR, RT-PCR, SEQ - - ACHP Fam4PatIV18 PubMed: Ianakiev 2001 4-generation family, 7 affected (4F, 3M) M yes Brazil - - - - - 7 Johan den Dunnen
+/. 3i_4i c.(180-2500_180-1200)_(319+2700_319+3500)del r.180_319del p.Leu61Phefs*66 Both (homozygous) - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - - - DNA, RNA microsat, PCR, RT-PCR, SEQ - - ACHP Fam3PatII1 PubMed: Ianakiev 2001 2-generation family, 1 affected M yes Brazil - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(180-2500_180-1200)_(319+2700_319+3500)del r.180_319del p.Leu61Phefs*66 Both (homozygous) - pathogenic (recessive) g.(156615799_156616599)_(156620638_156621938)del g.(156823105_156823905)_(156827944_156829244)del 1.2–2.5kb 5′exon 4 2.7–3.5kb 3′ - LMBR1_000028 variant may influence SHH expression PubMed: Ianakiev 2001 - - Germline yes - - - - DNA, RNA microsat, PCR, RT-PCR, SEQ - - ACHP Fam5PatII1 PubMed: Ianakiev 2001 2-generation family, 1 affected F yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.(?_320-2849)_(1226-9356_?)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_156490241)_(156592035_?)del - 101.794 kb deletion incl ex1-16 - LMBR1_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0861 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. - c.423+3607G>C r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156585476C>G g.156792782C>G - - LMBR1_000018 mapped by linkage LOD score 3.0; variant in evolutionary conserved pZRS region; functional characterization mouse transgenic enhancer assay showed extended ectopic expression dispersed throughout entire limb bud (E11.5) PubMed: Potuijt 2018 - - Germline yes - - - - DNA arraySNP, MLPA, SEQ, SEQ-NG - WES PPD2 Fam1 PubMed: Potuijt 2018 5-generation family, 18 affected (9F, 9M) F;M no Netherlands - - - - - 18 Johan den Dunnen
-?/. 5i c.423+4220C>T r.(=) p.(=) Unknown - likely pathogenic g.156584863G>A - - - LMBR1_000030 variant suggested to affect SHH expression; variant in duplicated region detected by Sun 2008 PubMed: Wang 2007, PubMed: Sun 2008 - - Germline yes - - - - DNA microsat, PCR - - ? Fam6 PubMed: Wang 2007, PubMed: Sun 2008 5-generation family, 21 (5F, 16M) F;M - China Han - - - - 21 Johan den Dunnen
-?/. - c.423+4394A>G r.(=) p.(=) Unknown - likely benign g.156584689T>C g.156791995T>C - - LMBR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423+4516C>G r.(=) p.(=) Unknown - benign g.156584567G>C g.156791873G>C LMBR1(NM_022458.3):c.423+4516C>G - LMBR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.423+4516C>G r.(=) p.(=) Unknown - benign g.156584567G>C - - - LMBR1_000008 - PubMed: Sun 2008 - - Germline - - - - - DNA microsat, PCR - - ? Fam6 PubMed: Wang 2007, PubMed: Sun 2008 5-generation family, 21 (5F, 16M) F;M - China Han - - - - 21 Johan den Dunnen
+/. - c.423+4618C>G r.(=) p.(=) Unknown - pathogenic g.156584465G>C g.156791771G>C LMBR1(NM_022458.3):c.423+4618C>G - LMBR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.423+4618C>G r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156584465G>C - ZRS 105C>G - LMBR1_000007 not in 1354 control chromosomes; variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - - - DNA SEQ - - PPD family PubMed: Zguricas 1999, PubMed: Lettice 2003 9-generation family, 96 affected F;M no Netherlands - - - - - 96 Johan den Dunnen
+/. - c.423+4808T>C r.(=) p.(=) Unknown - pathogenic g.156584275A>G g.156791581A>G LMBR1(NM_022458.3):c.423+4808T>C - LMBR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.423+4818A>T r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156584265T>A - ZRS 305A>T - LMBR1_000022 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - - - DNA SEQ - - PPD FamBel1 PubMed: Lettice 2003 4-generation family, 8 affected (4F, 4M) F;M no Belgium - - - - - 8 Johan den Dunnen
+/. 5i c.423+4842T>C r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156584241A>G - ZRS 323T>C - LMBR1_000023 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - - - DNA SEQ - - PPD FamBel2 PubMed: Lettice 2003 4-generation family, 6 affected (F, 5M) F;M yes Belgium - - - - - 6 Johan den Dunnen
?/. - c.423+4914del r.(=) p.(=) Unknown - VUS g.156584169del g.156791475del LMBR1(NM_022458.3):c.423+4914delA - LMBR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.423+4917G>A r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156584166C>T - ZRS 404G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Lettice 2003 - - Germline yes - - - - DNA SEQ - - PPD FamCub PubMed: Lettice 2003 family, 6 affected - - Cuba - - - - - 6 Johan den Dunnen
+/. 5i c.423+4917G>A r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.156584166C>T - g.105213G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - - - DNA SEQ - - PPD Fam1PatIII2 PubMed: Wieczorek 2010 4-generation family, affected father/son M - Turkey - - - - - 2 Johan den Dunnen
+/. 5i c.423+4917G>A r.(=) p.(=) Unknown - pathogenic (dominant) g.156584166C>T - ZRS 404G>A - LMBR1_000024 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? Fam2PatII1 PubMed: Norbnop 2014 1-generation family, 1 affected F - Thailand - - - - - 1 Johan den Dunnen
+/. 5i c.423+4917G>C r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.156584166C>G - g.105213G>C - LMBR1_000031 variant in SHH regulatory element PubMed: Wieczorek 2010 - - Germline yes - - - - DNA SEQ - - ? Fam2 PubMed: Wieczorek 2010 3-generation family, 10 affected F;M - Brazil - - - - - 2 Johan den Dunnen
+/. 5i c.423+4919A>G r.(=) p.(=) Unknown - pathogenic (dominant) g.156584164T>C - - - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline/De novo (untested) yes - - - - DNA SEQ - - ? Fam1PatI1 PubMed: Norbnop 2014 3-generation family, 3 affecteds (grandfather, father, son) M - Thailand - - - - - 3 Johan den Dunnen
+/. 5i c.423+4919A>G r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.156584164T>C - ZRS 406A>G - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline yes - - - - DNA SEQ - - ? Fam1PatII1 PubMed: Norbnop 2014 father M - Thailand - - - - - 1 Johan den Dunnen
+/. 5i c.423+4919A>G r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.156584164T>C - ZRS 406A>G - LMBR1_000027 variant in SHH regulatory element PubMed: Norbnop 2014 - - Germline yes - - - - DNA SEQ - - ? Fam1PatIII1 PubMed: Norbnop 2014 son M - Thailand - - - - - 1 Johan den Dunnen
?/. - c.423+5006A>G r.(=) p.(=) Unknown - VUS g.156584077T>C g.156791383T>C LMBR1(NM_022458.3):c.423+5006A>G - LMBR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423+5020C>G r.(=) p.(=) Unknown - benign g.156584063G>C g.156791369G>C LMBR1(NM_022458.3):c.423+5020C>G - LMBR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.423+5114_423+5115insTAAGGAAGTGATT r.(?) p.(?) Unknown - pathogenic g.156583970_156583971insTCACTTCCTTAAA g.156791276_156791277insTCACTTCCTTAAA NG_009240.1:g.106934_106935insTAAGGAAGTGATT - LMBR1_000002 traditional variant name ZRS603ins13; insertion in sonic hedgehog ZRS limb enhancer PubMed: Laurell 2012 - - Germline - - - - - DNA PCR, SEQ - - PPD2 - PubMed: Laurell 2012 - - - - - - - - - 1 Nadav Ahituv
+/. 5i c.423+5134C>G r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156583949G>C - ZRS 621C>G - LMBR1_000007 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - - - DNA SEQ - - ? ?;FamB PubMed: Dobbs 2000, PubMed: Gurnett 2007 3-generation family, 9 affected (7F, 2M) F;M - United States - - - - - 9 Johan den Dunnen
+/. 5i c.423+5252A>G r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156583831T>C - ZRS 739A>G - LMBR1_000037 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - - - DNA SEQ - - ? ?;FamA PubMed: Dobbs 2000, PubMed: Gurnett 2007 3-generation family, 19 affected (7F, 12M) F;M - United States - - - - - 19 Johan den Dunnen
+/. 5i c.423+5252A>G r.(=) p.(=) Parent #1 - pathogenic (dominant) g.156583831T>C - ZRS 739A>G - LMBR1_000037 variant in SHH regulatory element PubMed: Gurnett 2007 - - Germline yes - - - - DNA SEQ - - ? FamC PubMed: Gurnett 2007 3-generation family, 3 affected (2F, M) F;M - United States - - - - - 3 Johan den Dunnen
?/. - c.424-15938G>A r.(=) p.(=) Unknown - VUS g.156572427C>T - LMBR1(NM_001350955.1):c.-111-1G>A - LMBR1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448A>G r.(?) p.(Thr150Ala) Unknown - VUS g.156556465T>C - LMBR1(NM_022458.4):c.448A>G (p.(Thr150Ala)) - LMBR1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.535A>T r.(?) p.(Met179Leu) Unknown - likely benign g.156556378T>A - LMBR1(NM_022458.3):c.535A>T (p.(Met179Leu)) - LMBR1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758-2360A>G r.(=) p.(=) Unknown - likely benign g.156529311T>C - LMBR1(NM_001350953.2):c.758-2A>G - LMBR1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.758-2270G>A r.(=) p.(=) Unknown - likely benign g.156529221C>T - LMBR1(NM_001350953.2):c.846G>A (p.(Trp282*)) - LMBR1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886G>A r.(?) p.(Ala296Thr) Unknown - VUS g.156521367C>T g.156728673C>T LMBR1(NM_022458.4):c.886G>A (p.(Ala296Thr)) - LMBR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095C>G r.(?) p.(=) Unknown - likely benign g.156518192G>C - LMBR1(NM_022458.4):c.1095C>G (p.(Gly365=)) - LMBR1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150A>G r.(?) p.(Met384Val) Unknown - VUS g.156518137T>C - LMBR1(NM_022458.4):c.1150A>G (p.(Met384Val)) - LMBR1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1252G>A r.(?) p.(Asp418Asn) Unknown - VUS g.156480859C>T - LMBR1(NM_022458.3):c.1252G>A (p.(Asp418Asn)) - LMBR1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286A>G r.(?) p.(Tyr429Cys) Unknown - VUS g.156480825T>C - LMBR1(NM_022458.3):c.1286A>G (p.(Tyr429Cys)) - LMBR1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1408C>T r.(?) p.(Pro470Ser) Unknown - likely benign g.156476837G>A - LMBR1(NM_022458.3):c.1408C>T (p.(Pro470Ser)) - LMBR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2065A>G r.(=) p.(=) Parent #1 - likely benign g.156474707T>C g.156682013T>C - - LMBR1_000017 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146931391 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-/. - c.*2603A>G r.(=) p.(=) Parent #1 - benign g.156474169T>C g.156681475T>C - - LMBR1_000016 238 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1014236 Germline - 238/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 238 Mohammed Faruq
-/. - c.*2603A>G - - Both (homozygous) - benign g.156474169T>C g.156681475T>C - - LMBR1_000016 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1014236 Germline - 6/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.*7599C>T r.(=) p.(=) Unknown - likely benign g.156469173G>A g.156676479G>A RNF32(NM_001184996.1):c.913G>A (p.(Gly305Ser)) - LMBR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.