ClinVar

NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95453489 (on Assembly GRCh38)
• Chr9: 98215771 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3438C>T (p.Asp1146=)

HGVS:

• NC_000009.12:g.95453489G>A
• NG_007664.1:g.68477C>T
• NM_000264.5:c.3438C>TMANE SELECT
• NM_001083602.3:c.3240C>T
• NM_001083603.3:c.3435C>T
• NM_001083604.3:c.2985C>T
• NM_001083605.3:c.2985C>T
• NM_001083606.3:c.2985C>T
• NM_001083607.3:c.2985C>T
• NM_001354918.2:c.3282C>T
• NP_000255.2:p.Asp1146=
• NP_001077071.1:p.Asp1080=
• NP_001077072.1:p.Asp1145=
• NP_001077073.1:p.Asp995=
• NP_001077074.1:p.Asp995=
• NP_001077075.1:p.Asp995=
• NP_001077076.1:p.Asp995=
• NP_001341847.1:p.Asp1094=
• LRG_515t1:c.3438C>T
• LRG_515:g.68477C>T
• NC_000009.11:g.98215771G>A
• NM_000264.3:c.3438C>T
• NR_149061.2:n.4177C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1554690401

NCBI 1000 Genomes Browser:

rs1554690401

Molecular consequence:

• NR_149061.2:n.4177C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000264.5:c.3438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083602.3:c.3240C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083603.3:c.3435C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083604.3:c.2985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083605.3:c.2985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083606.3:c.2985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001083607.3:c.2985C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354918.2:c.3282C>T - synonymous variant - [Sequence Ontology: SO:0001819]