ClinVar

NM_004187.5(KDM5C):c.4629G>A (p.Leu1543=)

Gene:

KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

• ChrX: 53193021 (on Assembly GRCh38)
• ChrX: 53222203 (on Assembly GRCh37)

Preferred name:

NM_004187.5(KDM5C):c.4629G>A (p.Leu1543=)

HGVS:

• NC_000023.11:g.53193021C>T
• NG_008085.2:g.37402G>A
• NM_001146702.2:c.4047-184G>A
• NM_001282622.3:c.4626G>A
• NM_001353978.3:c.4620G>A
• NM_001353979.2:c.4314+416G>A
• NM_001353981.2:c.4308+416G>A
• NM_001353982.2:c.4305+416G>A
• NM_001353984.2:c.4308+416G>A
• NM_004187.5:c.4629G>AMANE SELECT
• NP_001269551.1:p.Leu1542=
• NP_001340907.1:p.Leu1540=
• NP_004178.2:p.Leu1543=
• NC_000023.10:g.53222203C>T
• NM_004187.2:c.4629G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1407999728

NCBI 1000 Genomes Browser:

rs1407999728

Molecular consequence:

• NM_001146702.2:c.4047-184G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353979.2:c.4314+416G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353981.2:c.4308+416G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353982.2:c.4305+416G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001353984.2:c.4308+416G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282622.3:c.4626G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001353978.3:c.4620G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004187.5:c.4629G>A - synonymous variant - [Sequence Ontology: SO:0001819]