ClinVar

NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup)

Gene:

KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7846859 - 7846860 (on Assembly GRCh38)
• Chr17: 7750177 - 7750178 (on Assembly GRCh37)

Preferred name:

NM_001348716.2(KDM6B):c.753ACC[16] (p.Pro262_Pro264dup)

HGVS:

• NC_000017.11:g.7846860ACC[16]
• NG_053032.1:g.17661ACC[16]
• NM_001080424.2:c.753ACC[16]
• NM_001348716.2:c.753ACC[16]MANE SELECT
• NP_001073893.1:p.Pro262_Pro264dup
• NP_001335645.1:p.Pro262_Pro264dup
• NC_000017.10:g.7750178ACC[16]
• NM_001080424.1:c.783_791dup
• NM_001080424.1:c.783_791dup9

This HGVS expression did not pass validation

Links:

dbSNP: rs61462443

NCBI 1000 Genomes Browser:

rs61462443

Molecular consequence:

• NM_001080424.2:c.753ACC[16] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001348716.2:c.753ACC[16] - inframe_insertion - [Sequence Ontology: SO:0001821]