ClinVar

NM_001191057.4(PDE1C):c.1961-123A>C

Gene:

PDE1C:phosphodiesterase 1C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

• Chr7: 31753676 (on Assembly GRCh38)
• Chr7: 31793290 (on Assembly GRCh37)

Preferred name:

NM_001191057.4(PDE1C):c.1961-123A>C

HGVS:

• NC_000007.14:g.31753676T>G
• NG_051183.1:g.679549A>C
• NM_001191057.4:c.1961-123A>CMANE SELECT
• NM_001191058.4:c.2141-123A>C
• NM_001191059.4:c.1961-123A>C
• NM_001322055.2:c.1961-123A>C
• NC_000007.13:g.31793290T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs116123743

NCBI 1000 Genomes Browser:

rs116123743

Molecular consequence:

• NM_001191057.4:c.1961-123A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001191058.4:c.2141-123A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001191059.4:c.1961-123A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322055.2:c.1961-123A>C - intron variant - [Sequence Ontology: SO:0001627]