ClinVar

NM_017780.4(CHD7):c.3071C>T (p.Pro1024Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60822616 (on Assembly GRCh38)
• Chr8: 61735175 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.3071C>T (p.Pro1024Leu)

HGVS:

• NC_000008.11:g.60822616C>T
• NG_007009.1:g.148837C>T
• NM_001316690.1:c.1717-39613C>T
• NM_017780.4:c.3071C>TMANE SELECT
• NP_060250.2:p.Pro1024Leu
• NP_060250.2:p.Pro1024Leu
• LRG_176t1:c.3071C>T
• LRG_176:g.148837C>T
• LRG_176p1:p.Pro1024Leu
• NC_000008.10:g.61735175C>T
• NM_017780.2:c.3071C>T

This HGVS expression did not pass validation

Protein change:

P1024L

Molecular consequence:

• NM_001316690.1:c.1717-39613C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017780.4:c.3071C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1