ClinVar

NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)

Gene:

PTCH1:patched 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.32

Genomic location:

• Chr9: 95456391 (on Assembly GRCh38)
• Chr9: 98218673 (on Assembly GRCh37)

Preferred name:

NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)

HGVS:

• NC_000009.12:g.95456391G>A
• NG_007664.1:g.65575C>T
• NM_000264.4:c.3191C>T
• NM_000264.5:c.3191C>TMANE SELECT
• NM_001083602.3:c.2993C>T
• NM_001083603.3:c.3188C>T
• NM_001083604.3:c.2738C>T
• NM_001083605.3:c.2738C>T
• NM_001083606.3:c.2738C>T
• NM_001083607.3:c.2738C>T
• NM_001354918.2:c.3035C>T
• NP_000255.2:p.Thr1064Met
• NP_001077071.1:p.Thr998Met
• NP_001077072.1:p.Thr1063Met
• NP_001077073.1:p.Thr913Met
• NP_001077074.1:p.Thr913Met
• NP_001077075.1:p.Thr913Met
• NP_001077076.1:p.Thr913Met
• NP_001341847.1:p.Thr1012Met
• LRG_515t1:c.3191C>T
• LRG_515:g.65575C>T
• NC_000009.11:g.98218673G>A
• NM_000264.3:c.3191C>T
• NR_149061.2:n.3930C>T

This HGVS expression did not pass validation

Protein change:

T1012M

Links:

dbSNP: rs368417828

NCBI 1000 Genomes Browser:

rs368417828

Molecular consequence:

• NM_000264.5:c.3191C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083602.3:c.2993C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083603.3:c.3188C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083604.3:c.2738C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083605.3:c.2738C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083606.3:c.2738C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001083607.3:c.2738C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354918.2:c.3035C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_149061.2:n.3930C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]