ClinVar

NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60742931 (on Assembly GRCh38)
• Chr8: 61655490 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)

HGVS:

• NC_000008.11:g.60742931A>G
• NG_007009.1:g.69152A>G
• NM_001316690.1:c.1499A>G
• NM_017780.4:c.1499A>GMANE SELECT
• NP_001303619.1:p.Gln500Arg
• NP_060250.2:p.Gln500Arg
• LRG_176:g.69152A>G
• NC_000008.10:g.61655490A>G

This HGVS expression did not pass validation

Protein change:

Q500R

Links:

dbSNP: rs1465792260

NCBI 1000 Genomes Browser:

rs1465792260

Molecular consequence:

• NM_001316690.1:c.1499A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_017780.4:c.1499A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1