ClinVar

NM_003975.4(SH2D2A):c.123+181C>T

Genes:

SH2D2A:SH2 domain containing 2A [Gene - OMIM - HGNC]
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.1

Genomic location:

• Chr1: 156815825 (on Assembly GRCh38)
• Chr1: 156785617 (on Assembly GRCh37)

Preferred name:

NM_003975.4(SH2D2A):c.123+181C>T

HGVS:

• NC_000001.11:g.156815825G>A
• NG_007493.1:g.5076G>A
• NG_016849.1:g.6024C>T
• NM_001007792.1:c.-5G>A
• NM_001161441.2:c.123+181C>T
• NM_001161442.2:c.69+181C>T
• NM_001161443.2:c.39+181C>T
• NM_001161444.2:c.123+181C>T
• NM_003975.4:c.123+181C>TMANE SELECT
• LRG_261t1:c.-5G>A
• LRG_261t2:c.-45110G>A
• LRG_261:g.5076G>A
• NC_000001.10:g.156785617G>A
• NM_001012331.1:c.-45110G>A
• NM_001161441.1:c.123+181C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1800601

NCBI 1000 Genomes Browser:

rs1800601

Molecular consequence:

• NM_001007792.1:c.-5G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001161441.2:c.123+181C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161442.2:c.69+181C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161443.2:c.39+181C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001161444.2:c.123+181C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003975.4:c.123+181C>T - intron variant - [Sequence Ontology: SO:0001627]