Unique variants in gene HNRNPH1

Information The variants shown are described using the NM_005520.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.98-187A>G - - p.(=) g.179048585T>C g.179621584T>C - - HNRNPH1_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.98-51A>C - - p.(=) g.179048449T>G g.179621448T>G - - HNRNPH1_000001 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1118-24_1118-23insTT - - p.(=) g.179043982_179043983insAA g.179616981_179616982insAA - - HNRNPH1_000007 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1179_1192del VUS r.(?) p.(Ser394Argfs*45) g.179043889_179043902del - HNRNPH1(NM_001257293.1):c.1179_1192del (p.(Ser394ArgfsTer45)) - HNRNPH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1189A>C likely benign r.(?) p.(Met397Leu) g.179043888T>G - HNRNPH1(NM_001257293.1):c.1189A>C (p.(Met397Leu)) - HNRNPH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1191G>A likely benign r.(?) p.(Met397Ile) g.179043886C>T - HNRNPH1(NM_001257293.1):c.1191G>A (p.(Met397Ile)) - HNRNPH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1207+223A>C - - p.(=) g.179043647T>G g.179616646T>G - - HNRNPH1_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1300+52A>G - - p.(=) g.179043075T>C g.179616074T>C - - HNRNPH1_000004 - - - - Germline - - - - - Yu Sun
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