ClinVar

NM_000264.5(PTCH1):c.3449+7A>T

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453471 (on Assembly GRCh38)
• Chr9: 98215753 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3449+7A>T

HGVS:

• NC_000009.12:g.95453471T>A
• NG_007664.1:g.68495A>T
• NM_000264.5:c.3449+7A>TMANE SELECT
• NM_001083602.3:c.3251+7A>T
• NM_001083603.3:c.3446+7A>T
• NM_001083604.3:c.2996+7A>T
• NM_001083605.3:c.2996+7A>T
• NM_001083606.3:c.2996+7A>T
• NM_001083607.3:c.2996+7A>T
• NM_001354918.2:c.3293+7A>T
• LRG_515t1:c.3449+7A>T
• LRG_515:g.68495A>T
• NC_000009.11:g.98215753T>A
• NM_000264.3:c.3449+7A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374907800

NCBI 1000 Genomes Browser:

rs374907800

Molecular consequence:

• NM_000264.5:c.3449+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083602.3:c.3251+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083603.3:c.3446+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083604.3:c.2996+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083605.3:c.2996+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083606.3:c.2996+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083607.3:c.2996+7A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354918.2:c.3293+7A>T - intron variant - [Sequence Ontology: SO:0001627]