ClinVar

NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60852574 (on Assembly GRCh38)
• Chr8: 61765133 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter)

HGVS:

• NC_000008.11:g.60852574C>T
• NG_007009.1:g.178795C>T
• NM_001316690.1:c.1717-9655C>T
• NM_017780.4:c.5971C>TMANE SELECT
• NP_060250.2:p.Gln1991Ter
• LRG_176:g.178795C>T
• NC_000008.10:g.61765133C>T

This HGVS expression did not pass validation

Protein change:

Q1991*

Links:

dbSNP: rs1563659730

NCBI 1000 Genomes Browser:

rs1563659730

Molecular consequence:

• NM_001316690.1:c.1717-9655C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017780.4:c.5971C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1