ClinVar

NM_000325.6(PITX2):c.206-9C>T

Gene:

PITX2:paired like homeodomain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

• Chr4: 110621378 (on Assembly GRCh38)
• Chr4: 111542534 (on Assembly GRCh37)

Preferred name:

NM_000325.6(PITX2):c.206-9C>T

HGVS:

• NC_000004.12:g.110621378G>A
• NG_007120.1:g.20975C>T
• NM_000325.6:c.206-9C>TMANE SELECT
• NM_001204397.2:c.185-9C>T
• NM_001204398.1:c.185-9C>T
• NM_001204399.1:c.47-9C>T
• NM_153426.3:c.185-9C>T
• NM_153427.3:c.47-9C>T
• NC_000004.11:g.111542534G>A
• NM_153427.2:c.47-9C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367757020

NCBI 1000 Genomes Browser:

rs367757020

Molecular consequence:

• NM_000325.6:c.206-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204397.2:c.185-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204398.1:c.185-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204399.1:c.47-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_153426.3:c.185-9C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_153427.3:c.47-9C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1