ClinVar

NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60852941 (on Assembly GRCh38)
• Chr8: 61765500 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)

HGVS:

• NC_000008.11:g.60852941C>G
• NG_007009.1:g.179162C>G
• NM_001316690.1:c.1717-9288C>G
• NM_017780.4:c.6216C>GMANE SELECT
• NP_060250.2:p.Pro2072=
• LRG_176t1:c.6216C>G
• LRG_176:g.179162C>G
• LRG_176p1:p.(=)
• NC_000008.10:g.61765500C>G
• NM_017780.2:c.6216C>G
• NM_017780.3:c.6216C>G
• NP_060250.2:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs199828744

NCBI 1000 Genomes Browser:

rs199828744

Molecular consequence:

• NM_001316690.1:c.1717-9288C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_017780.4:c.6216C>G - synonymous variant - [Sequence Ontology: SO:0001819]