ClinVar

NM_001909.5(CTSD):c.972+9C>T

Gene:

CTSD:cathepsin D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 1753985 (on Assembly GRCh38)
• Chr11: 1775215 (on Assembly GRCh37)

Preferred name:

NM_001909.5(CTSD):c.972+9C>T

HGVS:

• NC_000011.10:g.1753985G>A
• NG_008655.1:g.15008C>T
• NM_001909.5:c.972+9C>TMANE SELECT
• NC_000011.9:g.1775215G>A
• NM_001909.4:c.972+9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs746243061

NCBI 1000 Genomes Browser:

rs746243061

Molecular consequence:

• NM_001909.5:c.972+9C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1