ClinVar

NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60853302 (on Assembly GRCh38)
• Chr8: 61765861 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)

HGVS:

• NC_000008.11:g.60853302G>A
• NG_007009.1:g.179523G>A
• NM_001316690.1:c.1717-8927G>A
• NM_017780.4:c.6577G>AMANE SELECT
• NP_060250.2:p.Glu2193Lys
• LRG_176:g.179523G>A
• NC_000008.10:g.61765861G>A
• NM_017780.3:c.6577G>A

This HGVS expression did not pass validation

Protein change:

E2193K

Links:

dbSNP: rs918223900

NCBI 1000 Genomes Browser:

rs918223900

Molecular consequence:

• NM_001316690.1:c.1717-8927G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_017780.4:c.6577G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1