ClinVar

NM_000264.5(PTCH1):c.174C>T (p.Ala58=)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95508188 (on Assembly GRCh38)
• Chr9: 98270470 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.174C>T (p.Ala58=)

HGVS:

• NC_000009.12:g.95508188G>A
• NG_007664.1:g.13778C>T
• NM_000264.5:c.174C>TMANE SELECT
• NM_001083602.3:c.4-1589C>T
• NM_001083603.3:c.199-1589C>T
• NM_001354918.2:c.174C>T
• NM_001354919.2:c.4-1589C>T
• NP_000255.2:p.Ala58=
• NP_001341847.1:p.Ala58=
• LRG_515t1:c.174C>T
• LRG_515:g.13778C>T
• NC_000009.11:g.98270470G>A
• NM_000264.3:c.174C>T
• NR_149061.2:n.1079C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs368563182

NCBI 1000 Genomes Browser:

rs368563182

Molecular consequence:

• NM_001083602.3:c.4-1589C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001083603.3:c.199-1589C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354919.2:c.4-1589C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_149061.2:n.1079C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000264.5:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354918.2:c.174C>T - synonymous variant - [Sequence Ontology: SO:0001819]