ClinVar

NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112842630 (on Assembly GRCh38)
• Chr5: 112178327 (on Assembly GRCh37)

Preferred name:

NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)

Other names:

p.P2346S:CCA>TCA

HGVS:

• NC_000005.10:g.112842630C>T
• NG_008481.4:g.155110C>T
• NM_000038.6:c.7036C>TMANE SELECT
• NM_001127510.3:c.7036C>T
• NM_001127511.3:c.6982C>T
• NM_001354895.2:c.7036C>T
• NM_001354896.2:c.7090C>T
• NM_001354897.2:c.7066C>T
• NM_001354898.2:c.6961C>T
• NM_001354899.2:c.6952C>T
• NM_001354900.2:c.6913C>T
• NM_001354901.2:c.6859C>T
• NM_001354902.2:c.6763C>T
• NM_001354903.2:c.6733C>T
• NM_001354904.2:c.6658C>T
• NM_001354905.2:c.6556C>T
• NM_001354906.2:c.6187C>T
• NP_000029.2:p.Pro2346Ser
• NP_001120982.1:p.Pro2346Ser
• NP_001120983.2:p.Pro2328Ser
• NP_001341824.1:p.Pro2346Ser
• NP_001341825.1:p.Pro2364Ser
• NP_001341826.1:p.Pro2356Ser
• NP_001341827.1:p.Pro2321Ser
• NP_001341828.1:p.Pro2318Ser
• NP_001341829.1:p.Pro2305Ser
• NP_001341830.1:p.Pro2287Ser
• NP_001341831.1:p.Pro2255Ser
• NP_001341832.1:p.Pro2245Ser
• NP_001341833.1:p.Pro2220Ser
• NP_001341834.1:p.Pro2186Ser
• NP_001341835.1:p.Pro2063Ser
• LRG_130t1:c.7036C>T
• LRG_130:g.155110C>T
• NC_000005.9:g.112178327C>T
• NM_000038.4:c.7036C>T
• NM_000038.5:c.7036C>T
• p.P2346S

This HGVS expression did not pass validation

Protein change:

P2063S

Links:

dbSNP: rs200756935

NCBI 1000 Genomes Browser:

rs200756935

Molecular consequence:

• NM_000038.6:c.7036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127510.3:c.7036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127511.3:c.6982C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354895.2:c.7036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354896.2:c.7090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354897.2:c.7066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354898.2:c.6961C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354899.2:c.6952C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354900.2:c.6913C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354901.2:c.6859C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354902.2:c.6763C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354903.2:c.6733C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354904.2:c.6658C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354905.2:c.6556C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354906.2:c.6187C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

14