ClinVar

NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val)

Gene:

CHD4:chromodomain helicase DNA binding protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6588360 (on Assembly GRCh38)
• Chr12: 6697526 (on Assembly GRCh37)

Preferred name:

NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val)

HGVS:

• NC_000012.12:g.6588360G>C
• NG_052823.1:g.24080C>G
• NM_001273.5:c.3403C>GMANE SELECT
• NM_001297553.2:c.3382C>G
• NM_001363606.2:c.3364C>G
• NP_001264.2:p.Leu1135Val
• NP_001284482.1:p.Leu1128Val
• NP_001350535.1:p.Leu1122Val
• NC_000012.11:g.6697526G>C

This HGVS expression did not pass validation

Protein change:

L1122V

Links:

dbSNP: rs1592270989

NCBI 1000 Genomes Browser:

rs1592270989

Molecular consequence:

• NM_001273.5:c.3403C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297553.2:c.3382C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363606.2:c.3364C>G - missense variant - [Sequence Ontology: SO:0001583]